BBS12, Official Symbol BBS12provided by HGNC Official Full Name Bardet-Biedl syndrome 12provided by HGNC Primary source HGNC:HGNC:26648 See related Ensembl:ENSG00000181004 MIM:610683; AllianceGenome:HGNC:26648 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C4orf24 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] Expression Broad expression in thyroid (RPKM 5.9), testis (RPKM 4.6) and 22 other tissues See more Orthologs mouse all