Gene Index

Gene Index — 125 IRD Genes

Explore 125 genes linked to inherited retinal diseases. View gene function, mutations, inheritance patterns, and therapy targets.

Explore the Genome

Browse genes associated with inherited retinal diseases, organized alphabetically with inheritance patterns and chromosomal locations.

Showing of genes

Chr:

No genes match your search criteria.

Inherited retinal disease gene profiles

ABCA4 — ATP binding cassette subfamily A member 4 gene profile

ABCA4 encodes a retina-specific ABC transporter protein involved in the visual cycle, primarily expressed in photoreceptor outer segments. Inheritance: Autosomal Recessive Chromosome: 1p22.1

ADAMTS18 — ADAM metallopeptidase with thrombospondin type 1 motif 18 gene profile

ADAMTS18 encodes a secreted zinc-dependent metalloproteinase belonging to the ADAMTS family, which plays a role in extracellular matrix remodeling and tissue development. Mutations in this gene are primarily associated with severe ocular developmental defects and early-onset retinal dystrophies, such as microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT). Inheritance: Autosomal Recessive Chromosome: 16q23.1

ADGRV1 — adhesion G protein-coupled receptor V1 gene profile

ADGRV1 encodes a very large G protein-coupled receptor involved in inner ear development and photoreceptor function. Inheritance: Autosomal Recessive Chromosome: 5q14.3

AIPL1 — aryl hydrocarbon receptor interacting protein like 1 gene profile

AIPL1 encodes a cochaperone protein involved in the folding and stability of phosphodiesterase 6 (PDE6) in photoreceptors. Inheritance: Autosomal Recessive Chromosome: 17p13.1

ALMS1 — Alstrom syndrome 1 gene profile

ALMS1 encodes a centrosomal protein involved in ciliary function, cell cycle regulation, and intracellular trafficking. Inheritance: Autosomal Recessive Chromosome: 2p13.1

ARL6 — ADP Ribosylation Factor Like GTPase 6 gene profile

ARL6 (also known as BBS3) encodes a small GTPase of the ARL/ARF family that is involved in membrane trafficking and cilia function. Mutations cause Bardet-Biedl syndrome type 3. The protein regulates BBSome recruitment to the ciliary membrane and is essential for proper ciliary trafficking. Inheritance: Autosomal Recessive

BBIP1 — BBSome Interacting Protein 1 gene profile

BBIP1 (BBS18) encodes a small protein that is a core component of the BBSome complex. It stabilizes cytoplasmic microtubules through acetylation and is required for BBSome assembly and ciliary membrane biogenesis. Inheritance: Autosomal Recessive

BBS1 — Bardet-Biedl syndrome 1 gene profile

BBS1 encodes a component of the BBSome, a protein complex essential for cilia formation and function, involved in Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 11q13.2

BBS10 — Bardet-Biedl syndrome 10 gene profile

BBS10 encodes a chaperonin-like protein involved in the assembly and stability of the BBSome complex, essential for ciliary function. Inheritance: Autosomal Recessive Chromosome: 12q21.2

BBS12 — Bardet-Biedl syndrome 12 gene profile

BBS12 encodes a protein that interacts with BBS10 and is involved in the assembly of the BBSome, a complex important for ciliary function. Inheritance: Autosomal Recessive Chromosome: 4q27

BBS2 — Bardet-Biedl syndrome 2 gene profile

BBS2 encodes a BBSome component, critical for cilia structure and function, whose mutations cause Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 16q13

BBS4 — Bardet-Biedl syndrome 4 gene profile

BBS4 encodes a BBSome subunit, essential for ciliary function, with mutations linked to Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 15q22.31

BBS5 — Bardet-Biedl syndrome 5 gene profile

BBS5 encodes a BBSome component, crucial for ciliary assembly and function, mutations of which cause Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 2q31.1

BBS7 — Bardet-Biedl syndrome 7 gene profile

BBS7 encodes a BBSome subunit, involved in ciliary trafficking, with mutations causing Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 4q27

BBS9 — Bardet-Biedl syndrome 9 gene profile

BBS9 encodes a protein that is part of the BBSome, a complex crucial for ciliary function and intracellular trafficking, implicated in Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 7p14.3

BEST1 — bestrophin 1 gene profile

BEST1 encodes a transmembrane protein forming a calcium-activated chloride channel primarily expressed in the retinal pigment epithelium (RPE). Inheritance: Autosomal Dominant Chromosome: 11q12.3

C8ORF37 — Chromosome 8 Open Reading Frame 37 gene profile

C8ORF37 (BBS21) encodes a ciliary protein whose exact function remains under investigation. Mutations cause both Bardet-Biedl syndrome type 21 and non-syndromic retinitis pigmentosa (RP64) as well as cone-rod dystrophy, demonstrating broad phenotypic variability. Inheritance: Autosomal Recessive

CACNA1F — calcium voltage-gated channel subunit alpha1 F gene profile

CACNA1F encodes the alpha-1F subunit of an L-type voltage-gated calcium channel predominantly expressed in retinal photoreceptors and bipolar cells. Inheritance: X-linked Recessive Chromosome: Xp11.23

CDH23 — cadherin related 23 gene profile

CDH23 encodes a protocadherin involved in the development and maintenance of mechanotransduction in the inner ear and retina. Inheritance: Autosomal Recessive Chromosome: 10q21.1

CEP164 — Centrosomal Protein 164 gene profile

CEP164 (BBS25) encodes a distal appendage protein of the mother centriole that is critical for ciliogenesis initiation. It recruits vesicles to the distal appendages and is required for the initial steps of primary cilium formation. Inheritance: Autosomal Recessive

CEP290 — centrosomal protein 290 gene profile

CEP290 encodes a large centrosomal protein critical for cilia formation and function, essential in various tissues including the retina. Inheritance: Autosomal Recessive Chromosome: 12q21.32

CFAP418 — Cilia And Flagella Associated Protein 418 gene profile

CFAP418 (BBS26, formerly C10orf67) encodes a ciliary protein most recently identified as a BBS gene. It is involved in ciliary function though its precise molecular role is still being characterized. Inheritance: Autosomal Recessive

CHM — choroideremia regulator of Rab3 GTPase activity gene profile

CHM encodes Rab escort protein 1 (REP-1), involved in lipid modification of Rab proteins, crucial for intracellular protein trafficking. Inheritance: X-linked Recessive Chromosome: Xq21.2

CIB2 — calcium and integrin binding family member 2 gene profile

CIB2 encodes a calcium- and integrin-binding protein involved in calcium signaling and mechanotransduction in sensory hair cells. Inheritance: Autosomal Recessive Chromosome: 15q25.1

CLN3 — CLN3 lysosomal/endosomal transmembrane protein, battenin gene profile

The CLN3 gene provides instructions for making battenin, a transmembrane protein primarily located in lysosomes and endosomes. Mutations in this gene lead to the accumulation of lipopigments in cells, causing neurodegenerative disorders such as juvenile neuronal ceroid lipofuscinosis (Batten disease) and isolated retinal degeneration. Inheritance: Autosomal Recessive Chromosome: 16p12.1

CLRN1 — clarin 1 gene profile

CLRN1 encodes clarin-1, a transmembrane protein localized to stereocilia of hair cells and photoreceptor inner segments. Inheritance: Autosomal Recessive Chromosome: 3q25.1

CNGA1 — Cyclic Nucleotide Gated Channel Alpha 1 gene profile

Encodes a subunit of the cGMP-gated cation channel critical for phototransduction in rod photoreceptors. Inheritance: Autosomal Recessive Chromosome: 10q21.1

CNGA3 — Cyclic Nucleotide Gated Channel Alpha 3 gene profile

Encodes a subunit of the cGMP-gated cation channel, vital for phototransduction in cone photoreceptors. Inheritance: Autosomal Recessive Chromosome: 2q11.2

CNGB1 — Cyclic Nucleotide Gated Channel Beta 1 gene profile

Encodes a regulatory subunit of the cGMP-gated cation channel, essential for rod photoreceptor function. Inheritance: Autosomal Recessive Chromosome: 16q13

CNGB3 — Cyclic Nucleotide Gated Channel Beta 3 gene profile

Encodes a regulatory subunit of the cGMP-gated cation channel, crucial for cone photoreceptor function. Inheritance: Autosomal Recessive Chromosome: 8q21.3

COL2A1 — Collagen type II alpha 1 chain gene profile

Encodes the alpha-1 chain of type II collagen, a major structural component of cartilage and vitreous humor. Inheritance: Autosomal dominant Chromosome: 12q13.11

COL9A1 — Collagen type IX alpha 1 chain gene profile

Encodes the alpha-1 chain of type IX collagen, a minor fibrillar collagen associated with type II collagen. Inheritance: Autosomal dominant Chromosome: 6q13

CRB1 — Crumbs Family Member 1, Polarity Complex Component gene profile

Encodes a transmembrane protein crucial for maintaining photoreceptor polarity and retinal organization. Inheritance: Autosomal Recessive Chromosome: 1q31.3

CRX — cone-rod homeobox gene profile

CRX is a transcription factor essential for the development and maintenance of photoreceptor cells in the retina. Inheritance: Autosomal Dominant Chromosome: 19q13.32

CYP4V2 — cytochrome P450 family 4 subfamily V member 2 gene profile

CYP4V2 encodes a cytochrome P450 enzyme involved in fatty acid metabolism, particularly in the retina. Inheritance: Autosomal Recessive Chromosome: 4q28.2

DFNB31 — deafness, autosomal recessive 31 gene profile

DFNB31 (also known as WHRN) encodes whirlin, a scaffold protein crucial for the development of stereocilia in the inner ear and photoreceptor outer segments. Inheritance: Autosomal Recessive Chromosome: 9q32

EFEMP1 — EGF containing fibulin-like extracellular matrix protein 1 gene profile

EFEMP1 encodes an extracellular matrix protein involved in maintaining the structural integrity of Bruch's membrane in the retina. Inheritance: Autosomal Dominant Chromosome: 2p16.1

ELOVL4 — ELOVL fatty acid elongase 4 gene profile

ELOVL4 encodes an enzyme responsible for the synthesis of very long-chain fatty acids, particularly in photoreceptor cells. Inheritance: Autosomal Dominant Chromosome: 6q14.1

EYS — eyes shut homolog gene profile

EYS encodes a large extracellular matrix protein crucial for photoreceptor outer segment development and maintenance. Inheritance: Autosomal Recessive Chromosome: 6q12

FAM161A — family with sequence similarity 161 member A gene profile

FAM161A is a ciliary protein involved in photoreceptor cilium maintenance and intracellular transport processes. Inheritance: Autosomal Recessive Chromosome: 2p21

FZD4 — frizzled class receptor 4 gene profile

FZD4 encodes a Wnt receptor involved in retinal vascular development and angiogenesis. Inheritance: Autosomal Dominant Chromosome: 11q14.2

GRK1 — G protein-coupled receptor kinase 1 gene profile

GRK1, also known as rhodopsin kinase, phosphorylates rhodopsin to initiate its deactivation. Inheritance: Autosomal Recessive Chromosome: 13q34

GUCA1A — guanylate cyclase activator 1A gene profile

This gene encodes a calcium-binding protein that regulates guanylate cyclase activity in photoreceptor cells, crucial for light adaptation. Inheritance: Autosomal Dominant Chromosome: 6p21.1

GUCY2D — guanylate cyclase 2D, retinal gene profile

Encodes a retinal guanylate cyclase responsible for synthesizing cGMP in photoreceptors, vital for phototransduction and maintaining retinal health. Inheritance: Autosomal Dominant Chromosome: 17p13.1

IFT27 — Intraflagellar Transport 27 gene profile

IFT27 (BBS19) encodes a small GTPase component of the intraflagellar transport (IFT) complex B. It is required for BBSome-mediated export of signaling receptors from cilia and for proper hedgehog signaling. Inheritance: Autosomal Recessive

IFT74 — Intraflagellar Transport 74 gene profile

IFT74 (BBS20) encodes a core component of the IFT-B complex that is essential for ciliogenesis. It forms a tubulin-binding module with IFT81 that transports tubulin to the ciliary tip for axoneme assembly. Inheritance: Autosomal Recessive

IMPDH1 — inosine monophosphate dehydrogenase 1 gene profile

Encodes an enzyme essential for de novo guanine nucleotide biosynthesis, critical for rapidly dividing cells like photoreceptors. Inheritance: Autosomal Dominant Chromosome: 7q32.1

IMPG2 — interphotoreceptor matrix proteoglycan 2 gene profile

Encodes a proteoglycan component of the interphotoreceptor matrix, vital for photoreceptor outer segment maintenance and adhesion. Inheritance: Autosomal Recessive Chromosome: 3q12.1

IQCB1 — IQ motif containing B1 gene profile

Encodes a protein involved in the ciliary localization of proteins, crucial for photoreceptor outer segment development and function. Inheritance: Autosomal Recessive Chromosome: 3q21.1

JAG1 — Jagged Canonical Notch Ligand 1 gene profile

The JAG1 gene encodes the Jagged-1 protein, which is a canonical ligand for multiple Notch receptors. It plays a crucial role in the Notch signaling pathway, mediating cell fate decisions during embryonic development and is primarily associated with Alagille syndrome when mutated. Inheritance: Autosomal Dominant Chromosome: 20p12.2

KCNJ13 — Potassium Inwardly Rectifying Channel Subfamily J Member 13 gene profile

The KCNJ13 gene encodes the Kir7.1 protein, which is a weakly inwardly rectifying potassium channel. This channel is critical for regulating potassium ion flow across cell membranes, thereby helping to stabilize the resting membrane potential. Mutations in this gene disrupt potassium homeostasis and are primarily associated with inherited retinal diseases, including Leber congenital amaurosis and snowflake vitreoretinal degeneration. Inheritance: Autosomal Recessive, Autosomal Dominant Chromosome: 2q37.1

KCNV2 — Potassium voltage-gated channel subfamily V member 2 gene profile

Encodes a voltage-gated potassium channel subunit expressed in retinal photoreceptors, important for light response regulation. Inheritance: Autosomal Recessive Chromosome: 9p24.1

LCA5 — Lebercilin gene profile

Encodes lebercilin, a ciliary protein localized to the photoreceptor connecting cilium, vital for outer segment integrity. Inheritance: Autosomal Recessive Chromosome: 6q14.1

LRAT — Lecithin Retinol Acyltransferase gene profile

Encodes an enzyme crucial for vitamin A metabolism, converting retinol to retinyl esters for storage in the retinal pigment epithelium. Inheritance: Autosomal Recessive Chromosome: 4q32.1

LRP5 — LDL receptor related protein 5 gene profile

Encodes a transmembrane receptor involved in Wnt signaling and bone metabolism, with a role in retinal vascular development. Inheritance: Autosomal Recessive Chromosome: 11q13.2

LZTFL1 — Leucine Zipper Transcription Factor Like 1 gene profile

LZTFL1 (BBS17) encodes a protein that regulates BBSome ciliary trafficking. It acts as a negative regulator of the hedgehog signaling pathway by controlling BBSome-mediated ciliary trafficking of smoothened. Mutations cause Bardet-Biedl syndrome type 17. Inheritance: Autosomal Recessive

MAK — Male Germ Cell Associated Kinase gene profile

Encodes a serine/threonine kinase primarily expressed in photoreceptors, playing a role in cilia and outer segment development. Inheritance: Autosomal Recessive Chromosome: 6p21.31

MERTK — MER Proto-Oncogene Tyrosine Kinase gene profile

Encodes a receptor tyrosine kinase critical for the phagocytosis of photoreceptor outer segment (POS) tips by the RPE. Inheritance: Autosomal Recessive Chromosome: 2q14.1

MFN2 — Mitofusin 2 gene profile

Encodes a mitochondrial outer membrane protein involved in mitochondrial fusion, crucial for maintaining mitochondrial network integrity. Inheritance: Autosomal Dominant Chromosome: 1p36.22

MKKS — McKusick-Kaufman Syndrome Regulator gene profile

Encodes a chaperonin-like protein involved in cilia formation and function, often associated with Bardet-Biedl syndrome. Inheritance: Autosomal Recessive Chromosome: 20p12.3

MKS1 — Meckel Syndrome Type 1 gene profile

MKS1 (BBS13) encodes a protein involved in ciliogenesis and centrosome migration. Originally identified as the causative gene for Meckel syndrome, it was later found to also cause Bardet-Biedl syndrome, highlighting the clinical overlap between ciliopathies. Inheritance: Autosomal Recessive

MT-ND1 — Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1 gene profile

The MT-ND1 gene provides instructions for making the NADH dehydrogenase 1 protein, which is a core subunit of the mitochondrial respiratory chain complex I. This large enzyme complex is located in the inner mitochondrial membrane and is essential for oxidative phosphorylation, the process that converts energy from food into ATP. Mutations in the MT-ND1 gene disrupt cellular energy production and are primarily associated with mitochondrial diseases affecting the nervous system and vision. Inheritance: Mitochondrial Chromosome: Mitochondrial (MT: 3,307-4,262)

MT-ND4 — NADH:Ubiquinone Oxidoreductase Core Subunit 4 gene profile

The MT-ND4 gene provides instructions for making a protein called NADH dehydrogenase 4, which is a core subunit of the mitochondrial complex I. This enzyme complex is essential for oxidative phosphorylation, the process that converts energy from food into ATP. Mutations in MT-ND4 impair mitochondrial respiration and are a primary cause of inherited mitochondrial diseases. Inheritance: Mitochondrial Chromosome: mitochondrial

MT-ND6 — Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6 gene profile

The MT-ND6 gene provides instructions for making the NADH dehydrogenase 6 protein, which is a core subunit of the mitochondrial respiratory chain Complex I. Mutations in this gene disrupt mitochondrial energy production and are primarily associated with Leber hereditary optic neuropathy (LHON) and Leigh syndrome. Inheritance: Mitochondrial Chromosome: Mitochondrial (MT)

MT-TL1 — Mitochondrially Encoded tRNA-Leu (UUA/G) 1 gene profile

The MT-TL1 gene provides instructions for making a specific transfer RNA (tRNA) designated as tRNALeu(UUR), which is located in the mitochondria. This tRNA is essential for assembling proteins involved in oxidative phosphorylation, the process that generates the cell's main energy source, ATP. Mutations in this gene disrupt mitochondrial energy production and lead to various multisystemic diseases. Inheritance: Mitochondrial (Maternal) Chromosome: Mitochondrial (MT: 3,230-3,304)

MYO7A — Myosin VIIA gene profile

This gene encodes an unconventional myosin that plays a crucial role in the development and function of the inner ear and retina. Inheritance: Autosomal Recessive Chromosome: 11q13.5

NDP — Norrin F-box protein gene profile

The NDP gene encodes norrin, a secreted growth factor that is critical for retinal vascular development and neurogenesis. Inheritance: X-linked Recessive Chromosome: Xp11.4

NMNAT1 — Nicotinamide nucleotide adenylyltransferase 1 gene profile

NMNAT1 encodes a nuclear NAD(+) synthase that catalyzes a key step in NAD biosynthesis by converting nicotinamide mononucleotide and ATP into NAD(+). Mutations in this gene are associated with Leber congenital amaurosis 9, a severe blinding disease. Inheritance: Autosomal Recessive Chromosome: 1p36.22

NOTCH2 — Notch receptor 2 gene profile

The NOTCH2 gene provides instructions for making a transmembrane receptor protein that is a key component of the Notch signaling pathway. This pathway is essential for regulating cell-fate determination and the normal embryonic development of various organs, including the heart, liver, kidneys, and bones. Inheritance: Autosomal Dominant Chromosome: 1p12

NPHP1 — Nephrocystin 1 gene profile

NPHP1 (BBS22) encodes nephrocystin-1, a protein that localizes to the transition zone of primary cilia and to cell-cell junctions. Originally identified as the cause of nephronophthisis, it was later associated with BBS and other ciliopathies. Inheritance: Autosomal Recessive

NR2E3 — Nuclear receptor subfamily 2 group E member 3 gene profile

This gene encodes a photoreceptor-specific nuclear receptor that is involved in the development and maintenance of rod photoreceptors. Inheritance: Autosomal Recessive Chromosome: 15q23

NRL — Neural retina-specific leucine zipper protein gene profile

NRL encodes a basic motif-leucine zipper transcription factor crucial for rod photoreceptor development and maintenance. Inheritance: Autosomal Dominant Chromosome: 14q11.2

NYX — Nyctalopin gene profile

The NYX gene encodes nyctalopin, a leucine-rich repeat protein involved in the synaptic transmission within the retina. Inheritance: X-linked Recessive Chromosome: Xp11.4

OAT — ornithine aminotransferase gene profile

This gene encodes a mitochondrial enzyme that catalyzes the interconversion of ornithine and alpha-ketoglutarate to glutamate and glutamate semialdehyde. Inheritance: Autosomal Recessive Chromosome: 10q26.13

OPA1 — OPA1 mitochondrial dynamin like GTPase gene profile

This gene encodes a mitochondrial inner membrane protein involved in mitochondrial fusion and cristae remodeling. Inheritance: Autosomal Dominant Chromosome: 3q29

OPA3 — Outer mitochondrial membrane lipid metabolism regulator OPA3 gene profile

The OPA3 gene provides instructions for making a protein found in mitochondria, the energy-producing centers of cells. It plays a role in regulating mitochondrial morphology, fission, and lipid metabolism, and is essential for the survival of cells with high energy demands, such as retinal ganglion cells. Inheritance: Autosomal Dominant, Autosomal Recessive Chromosome: 19q13.32

OPN1LW — Opsin 1, Long-Wave-Sensitive gene profile

The OPN1LW gene provides instructions for making a protein that is essential for normal color vision. This protein is found in the retina, which is the light-sensitive tissue at the back of the eye. Inheritance: X-Linked Chromosome: Xq28

OPN1MW — Opsin 1, Medium-Wave-Sensitive gene profile

The OPN1MW gene provides instructions for making an opsin pigment that is more sensitive to light in the middle of the visible spectrum (yellow/green light). This protein is essential for normal color vision and is found in the retina's cone photoreceptor cells. Inheritance: X-Linked Chromosome: Xq28

OPN1MW2 — Opsin 1, Medium Wave Sensitive 2 gene profile

OPN1MW2 encodes for a light-absorbing visual pigment of the opsin gene family, specifically the green cone photopigment or medium-wavelength sensitive opsin. It is part of a tandem array of opsin genes on the X chromosome, and defects in this gene cluster are associated with various color vision deficiencies. Inheritance: X-Linked Chromosome: Xq28

OPN1SW — Opsin 1, short-wave-sensitive gene profile

The OPN1SW gene provides instructions for making an opsin pigment that is more sensitive to light in the blue/violet part of the visible spectrum. It is essential for normal color vision. Inheritance: Autosomal Dominant Chromosome: 7q32.1

PCDH15 — protocadherin 15 gene profile

This gene encodes a cadherin-related protein involved in cell adhesion and mechanotransduction in sensory hair cells. Inheritance: Autosomal Recessive Chromosome: 10q21.1

PDE6A — phosphodiesterase 6A, cGMP-specific, rod, alpha gene profile

This gene encodes the alpha subunit of rod cGMP phosphodiesterase, a key enzyme in the phototransduction cascade. Inheritance: Autosomal Recessive Chromosome: 5q32

PDE6B — phosphodiesterase 6B, cGMP-specific, rod, beta gene profile

Encodes the beta subunit of rod cGMP phosphodiesterase, crucial for phototransduction in the retina. Inheritance: Autosomal Recessive Chromosome: 4q22.1

PDE6C — phosphodiesterase 6C, cGMP-specific, cone, alpha' gene profile

Encodes the alpha' subunit of cone cGMP phosphodiesterase, important for phototransduction in cone photoreceptors. Inheritance: Autosomal Recessive Chromosome: 10q24.33

PDE6H — Phosphodiesterase 6H, cGMP-specific, cone, gamma gene profile

The PDE6H gene provides instructions for making the inhibitory gamma subunit of the cone-specific phosphodiesterase enzyme. This enzyme is found exclusively in cone photoreceptor cells in the retina and is essential for normal color vision and visual acuity in bright light. Inheritance: Autosomal Recessive Chromosome: 12q13

PEX1 — Peroxisomal biogenesis factor 1 gene profile

PEX1 is a gene that encodes a member of the AAA ATPase family, which is essential for peroxisome biogenesis. Mutations in this gene are the most common cause of Zellweger spectrum disorders, a group of conditions characterized by severe neurological and metabolic defects. Inheritance: Autosomal Recessive Chromosome: 7q21.2

PEX10 — Peroxisomal biogenesis factor 10 gene profile

The PEX10 gene encodes a peroxisomal membrane protein essential for peroxisome biogenesis and the import of peroxisomal matrix proteins. Mutations in this gene lead to Zellweger spectrum disorders, a group of severe, often fatal, genetic diseases characterized by neurological, hepatic, and renal abnormalities. Inheritance: Autosomal Recessive Chromosome: 1p36.32

PEX12 — Peroxisomal Biogenesis Factor 12 gene profile

The PEX12 gene encodes an integral peroxisomal membrane protein essential for the assembly of functional peroxisomes. Mutations in this gene disrupt peroxisome biogenesis, leading to severe metabolic disorders known as Zellweger spectrum disorders, which affect multiple organ systems including the brain, liver, and eyes. Inheritance: Autosomal Recessive Chromosome: 17q12

PEX26 — Peroxisome biogenesis factor 26 gene profile

PEX26 encodes the peroxisome biogenesis factor 26, a membrane protein essential for peroxisome assembly and function. Mutations in this gene lead to peroxisome biogenesis disorders, including Zellweger syndrome spectrum disorders, which cause severe neurological, hepatic, and visual impairments. Inheritance: Autosomal Recessive Chromosome: 22q11.21

PEX6 — Peroxisomal biogenesis factor 6 gene profile

The PEX6 gene encodes peroxisome biogenesis factor 6, a member of the AAA-ATPase family. It plays a crucial role in peroxisome assembly and the import of peroxisomal matrix proteins, and its mutations are a major cause of Zellweger spectrum disorders. Inheritance: Autosomal Recessive Chromosome: 6p21.1

PEX7 — peroxisomal biogenesis factor 7 gene profile

Encodes a peroxisomal targeting signal 2 (PTS2) receptor, essential for importing specific proteins into peroxisomes. Inheritance: Autosomal Recessive Chromosome: 6q21

PHYH — phytanoyl-CoA hydroxylase gene profile

Encodes phytanoyl-CoA hydroxylase, an enzyme involved in the alpha-oxidation of branched-chain fatty acids. Inheritance: Autosomal Recessive Chromosome: 10p13

PLA2G5 — Phospholipase A2 Group V gene profile

The PLA2G5 gene encodes a secretory calcium-dependent phospholipase A2 enzyme that hydrolyzes membrane phospholipids to generate lysophospholipids and free fatty acids. Mutations in this gene are associated with benign familial fleck retina, a condition characterized by distinctive retinal lesions without significant visual impairment. Inheritance: Autosomal Recessive Chromosome: 1p36.13

PRDM13 — PR/SET domain 13 gene profile

Encodes a PR-domain containing protein involved in transcriptional regulation and cell differentiation. Inheritance: Autosomal Recessive Chromosome: 6q16.1

PRPF3 — pre-mRNA processing factor 3 gene profile

This gene encodes a component of the U4/U6.U5 tri-snRNP, which is a key part of the spliceosome responsible for pre-mRNA splicing. Inheritance: Autosomal Dominant Chromosome: 1q21.2

PRPF31 — pre-mRNA processing factor 31 gene profile

This gene product is a component of the U4/U6.U5 tri-snRNP, participating in the crucial process of pre-mRNA splicing. Inheritance: Autosomal Dominant Chromosome: 19q13.42

PRPF8 — pre-mRNA processing factor 8 gene profile

Encodes a core component of the U5 snRNP, which is critical for the catalytic step of pre-mRNA splicing within the spliceosome. Inheritance: Autosomal Dominant Chromosome: 17p13.3

PRPH2 — peripherin 2 gene profile

Encodes a transmembrane glycoprotein that is a major structural component of the rim region of rod and cone photoreceptor outer segment disc membranes. Inheritance: Autosomal Dominant Chromosome: 6p21.1

RDH12 — retinol dehydrogenase 12 gene profile

Encodes an enzyme involved in the visual cycle, specifically catalyzing the reduction of all-trans-retinal to all-trans-retinol. Inheritance: Autosomal Recessive Chromosome: 14q24.1

RDH5 — Retinol dehydrogenase 5 gene profile

The RDH5 gene provides instructions for making the enzyme 11-cis retinol dehydrogenase 5, which is essential for normal vision, particularly in low-light conditions. Mutations in this gene disrupt the visual cycle, leading to inherited retinal diseases such as fundus albipunctatus, characterized by impaired night vision and retinal flecks. Inheritance: Autosomal Recessive Chromosome: 12q13.2

RHO — Rhodopsin gene profile

Encodes rhodopsin, a light-sensitive receptor protein crucial for vision in dim light. Inheritance: Autosomal dominant, autosomal recessive Chromosome: 3q22.1

RLBP1 — Retinaldehyde binding protein 1 gene profile

Encodes cellular retinaldehyde-binding protein (CRALBP), essential for the visual cycle. Inheritance: Autosomal recessive Chromosome: 15q26.1

ROM1 — Rod outer segment membrane protein 1 gene profile

Encodes a structural protein of rod photoreceptor outer segment disc membranes. Inheritance: Autosomal dominant, digenic Chromosome: 11q13

RP1 — Retinitis pigmentosa 1 gene profile

Encodes a protein involved in photoreceptor outer segment morphogenesis and stability. Inheritance: Autosomal dominant, autosomal recessive Chromosome: 8q12.1

RP2 — Retinitis pigmentosa 2 gene profile

Encodes a protein involved in ciliary transport and photoreceptor function. Inheritance: X-linked recessive Chromosome: Xp11.3-p11.23

RPE65 — retinoid isomerohydrolase gene profile

Encodes a retinoid isomerohydrolase crucial for the visual cycle in the retinal pigment epithelium. Inheritance: Autosomal Recessive Chromosome: 1p31.3

RPGR — retinitis pigmentosa GTPase regulator gene profile

Encodes a protein involved in ciliary transport in photoreceptors, essential for their structure and function. Inheritance: X-linked Recessive Chromosome: Xp11.4

RPGRIP1 — X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 gene profile

RPGRIP1 encodes a scaffolding protein localized to the connecting cilium of photoreceptors. It is essential for normal photoreceptor development and maintenance, and mutations in this gene cause severe inherited retinal dystrophies such as Leber congenital amaurosis and cone-rod dystrophy. Inheritance: Autosomal Recessive Chromosome: 14q11.2

RS1 — retinoschisin 1 gene profile

Encodes retinoschisin, a protein involved in maintaining retinal cell adhesion and organization. Inheritance: X-linked Recessive Chromosome: Xp22.13

SAG — S-antigen visual arrestin gene profile

Encodes S-arrestin, a protein involved in the deactivation of rhodopsin in photoreceptor cells. Inheritance: Autosomal Recessive Chromosome: 2q37.3

SCAPER — S-Phase Cyclin A Associated Protein In The ER gene profile

SCAPER (BBS23) encodes a protein originally identified as a cyclin A-associated protein in the endoplasmic reticulum. It has since been found to localize to the ciliary base and is involved in cell cycle regulation and ciliogenesis. Inheritance: Autosomal Recessive

SCLT1 — Sodium Channel And Clathrin Linker 1 gene profile

SCLT1 (BBS24) encodes a centriolar protein required for the formation of distal appendages on the mother centriole, which are essential for ciliogenesis. Mutations disrupt cilia formation and cause Bardet-Biedl syndrome type 24. Inheritance: Autosomal Recessive

SDCCAG8 — Serologically Defined Colon Cancer Antigen 8 gene profile

SDCCAG8 (BBS16) encodes a centrosomal protein that localizes to the centrioles and the centrosome-cilium interface. Mutations cause BBS16 and nephronophthisis type 10, with retinal-renal involvement being a hallmark. Inheritance: Autosomal Recessive

SNRNP200 — small nuclear ribonucleoprotein U5 subunit 200 gene profile

Encodes a component of the U5 snRNP, crucial for pre-mRNA splicing in various cells, including retinal cells. Inheritance: Autosomal Dominant Chromosome: 2q11.2

SPATA7 — SPATA7, spermatogenesis associated protein 7 gene profile

Encodes a protein associated with spermatogenesis and essential for photoreceptor outer segment development and maintenance. Inheritance: Autosomal Recessive Chromosome: 14q32.11

TIMP3 — TIMP metallopeptidase inhibitor 3 gene profile

Encodes an inhibitor of metalloproteinases, crucial for extracellular matrix remodeling in the retina. Inheritance: Autosomal Dominant Chromosome: 22q12.3

TOPORS — TOPORS, topoisomerase I binding RS domain containing gene profile

Encodes a protein with E3 ubiquitin ligase activity, involved in protein degradation pathways. Inheritance: Autosomal Recessive Chromosome: 9p21.1

TRIM32 — TRIM32, tripartite motif containing 32 gene profile

Encodes an E3 ubiquitin ligase involved in protein degradation and muscle differentiation. Inheritance: Autosomal Recessive Chromosome: 9q33.1

TTC8 — Tetratricopeptide Repeat Domain 8 gene profile

TTC8 (BBS8) encodes a BBSome component with tetratricopeptide repeat domains. It is essential for BBSome assembly and ciliary trafficking. Mutations cause both Bardet-Biedl syndrome type 8 and non-syndromic retinitis pigmentosa (RP51), demonstrating the phenotypic spectrum of BBS gene mutations. Inheritance: Autosomal Recessive

TULP1 — TULP1, tubby like protein 1 gene profile

Encodes a protein involved in intracellular trafficking and signal transduction in photoreceptors. Inheritance: Autosomal Recessive Chromosome: 6p21.31

USH1C — Usher syndrome type 1C gene profile

Encodes harmonin, a scaffold protein crucial for the development and maintenance of inner ear and retinal photoreceptor cells. Inheritance: Autosomal recessive Chromosome: 11p15.1

USH2A — Usher syndrome type 2A gene profile

Encodes usherin, a large extracellular matrix protein vital for the structure and function of the photoreceptor cilium. Inheritance: Autosomal recessive Chromosome: 1q41

VPS13B — Vacuolar protein sorting 13 homolog B gene profile

The VPS13B gene provides instructions for making a protein that is part of the Golgi apparatus, where it is involved in protein modification (glycosylation) and the sorting and transporting of proteins and lipids. Mutations in this gene cause Cohen syndrome, a disorder characterized by intellectual disability, distinctive facial features, truncal obesity, and vision problems. Inheritance: Autosomal Recessive Chromosome: 8q22.2

WDPCP — WD Repeat Containing Planar Cell Polarity Effector gene profile

WDPCP (BBS15) encodes a planar cell polarity effector protein with WD repeat domains. It is involved in ciliogenesis and septins organization at the ciliary base. Mutations cause Bardet-Biedl syndrome type 15. Inheritance: Autosomal Recessive

WFS1 — Wolframin ER transmembrane glycoprotein gene profile

Encodes wolframin, a transmembrane protein localized to the endoplasmic reticulum, involved in calcium homeostasis and ER stress response. Inheritance: Autosomal recessive, Autosomal dominant Chromosome: 4p16.1