BBS1(redirected from Bardet-Biedl Syndrome 1)
Also found in: Acronyms.
BBS1A 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.
BBS1 mutations occur in Bardet-Biedl syndrome type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.