Disease-gene associations mined from literature

Literature associating BBS10 and asphyxiating thoracic dystrophy 3

BBS10 [ENSP00000376946]

Bardet-Biedl syndrome 10 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.

Synonyms:  BBS10,  BBS10p,  hBBS10,  Q8TAM1,  C12orf58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM