| Entrez gene ID | | 166379 |
| Official gene symbol | | BBS12 |
| Full name | | Bardet-Biedl syndrome 12 |
| Aliases | | ,C4orf24,FLJ35630,FLJ41559, |
| Gene 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] |
| Location | | Chromosome: 4 Locus: 4q27 |
| Gene position | | 123653857 - 123666098 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 12242 bp |
| Gene sequence |
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| OMIM ID | | 610683 |