BBS1


Also found in: Acronyms.

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.
References in periodicals archive ?
Bitumen storage tanks, from which the binder is transported via pipelines, are the same in AMP1 and AMP2, therefore, the assumption is made that PMB 45/80-55 bitumen used in the production of pilot SMA mixtures was transported of the same properties in both BBS1 and BBS2.
sp] of the bitumen used in BBS2 when increasing mixing time to 60 s was the same as that in BBS1.
Eleven genes are known to be associated with this syndrome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, BBS10, and TRIM32/ BBS11.