BBS1

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BBS1

A gene on chromosome 11q13 that encodes a protein of the BBSome complex, which is required for ciliogenesis. It is mediated in part by the Rab8 GDP/GTP exchange factor, localises to the basal body and contacts the BBSome. BBS1 is thought to play a role in eye, limb, cardiac and reproductive system development.

Molecular pathology
BBS1 mutations occur in Bardet-Biedl syndrome type 1.