Disease-gene associations mined from literature

Literature associating CCT5 and autosomal dominant mental retardation 48

CCT5 [ENSP00000280326]

Chaperonin containing TCP1, subunit 5 (epsilon); 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. Known to play a role, in vitro, in the folding of actin and tubulin; Chaperonins

Synonyms:  CCT5,  CCT5p,  hCCT5,  B4DZT5,  B7ZAR1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM