Gene Symbol | BBS12 |
Entrez Gene ID | 166379 |
Full Name | Bardet-Biedl syndrome 12 |
Synonyms | C4orf24 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Bardet-Biedl syndrome 12, 615989 (3) |