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 ?
Indeed, the IR forms a complex with exogenous BBS17, a protein that regulates the trafficking to the ciliary membrane through its interaction with BBS protein complexes [27], and depletion of BBS1, BBS2, BBS6, and BBS12 decreases the amount of IR localized at the plasmatic membrane.
When weighed out bitumen is discharged at the high BBS1 debit flow into a mixer, the area of the binder's loose surface exposed to ambient air oxygen is smaller; therefore, there is a probability that it oxidizes less.
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.
The change of penetration [Pen.sub.25] and softening point [T.sub.sp] of the bitumen used in BBS2 when increasing mixing time to 60 s was the same as that in BBS1. However, the change of these bitumen quality parameters was influenced only by 42-43% by mixing time [t.sub.m] of SMA mixture.
[I.sub.p] of the bitumen extracted from SMA mixture and recovered in rotary evaporator after batching in BBS1 and mixing in a mixer increases from -0.1 to 0.21-0.26.
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/ BBS11.4.