Also known as C4orf24, Bardet-Biedl syndrome 12
Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.
The protein encoded by this 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].
via MyGene.info
Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.
Mutations in this gene are associated with the Bardet–Biedl syndrome.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).