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

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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