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

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

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.

Gene description: 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.

Clinical significance: Mutations cause BBS23 and intellectual disability with retinitis pigmentosa. Relatively recently identified as a BBS gene.

Inheritance: Autosomal Recessive