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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BBS12 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID166379
Official gene symbolBBS12
Full nameBardet-Biedl syndrome 12
Aliases,C4orf24,FLJ35630,FLJ41559,
Gene summaryThe 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]
LocationChromosome: 4   Locus: 4q27
Gene position123653857 - 123666098  Map Viewer
Gene orientationplus
Gene size12242 bp
Gene sequence
OMIM ID610683