DISEASES

Disease-gene associations mined from literature

Literature associating CCT2 and Leber congenital amaurosis

CCT2 [ENSP00000299300]

T-complex protein 1 subunit beta; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis . The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance . 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 . The TRiC complex plays a role in the folding of actin and tubulin (Probable).

Synonyms:  CCT2,  CCT2p,  hCCT2,  F5GWF6,  F8VQ14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM