Aliases for BBS12 Gene
External Ids for BBS12 Gene
Previous HGNC Symbols for BBS12 Gene
Previous GeneCards Identifiers for 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]
GeneCards Summary for BBS12 Gene
BBS12 (Bardet-Biedl Syndrome 12) is a Protein Coding gene. Diseases associated with BBS12 include bbs12-related bardet-biedl syndrome and bardet-biedl syndrome 12. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.
UniProtKB/Swiss-Prot for BBS12 Gene
Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.