BBS12 - Bardet-Biedl syndrome 12 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-02-01
Description
The protein encoded by the BBS12 gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Predicted to enable ATP binding activity. Acts upstream of or within chaperone-mediated protein complex assembly and negative regulation of fat cell differentiation. Predicted to be located in cilium. Implicated in Bardet-Biedl syndrome 12.
- C4orf24
- chaperonin-containing T-complex member BBS12
- Bardet-Biedl syndrome 12 protein
Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PMID: 20080638). Involved in adipogenic differentiation (PMID: 19190184).
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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