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bbs12

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Official Full Name
Bardet-Biedl syndrome 12
Background
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.
Synonyms
BBS12; Bardet-Biedl syndrome 12; C4orf24, chromosome 4 open reading frame 24; Bardet-Biedl syndrome 12 protein; FLJ35630; FLJ41559; Bardet Biedl syndrome 12 protein; Bardet-Biedl syndrome 12 (human); Bardet-Biedl syndrome 12 protein homolog; BBS12 gene; C4orf24; Gm1805; Gm407; Gm721; RP23-137F6.2; OTTHUMP00000164085; OTTHUMP00000196371

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