DISEASES

Disease-gene associations mined from literature

Literature associating BBS12 and Meckel syndrome

BBS12 [ENSP00000438273]

Bardet-Biedl syndrome 12 protein; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC 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