DISEASES

Disease-gene associations mined from literature

Literature associating BBS12 and Bardet-Biedl syndrome 17

BBS12 [ENSP00000438273]

Bardet-Biedl syndrome 12 protein; 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; Belongs to the TCP-1 chaperonin family. BBS12 subfamily.

Synonyms:  BBS12,  BBS12p,  hBBS12,  C9J8H7,  Q6ZW61 ...

Linkouts:  STRING  Pharos  UniProt