Aliases for CCT5 Gene
External Ids for CCT5 Gene
Previous GeneCards Identifiers for CCT5 Gene
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
GeneCards Summary for CCT5 Gene
CCT5 (Chaperonin Containing TCP1, Subunit 5 (Epsilon)) is a Protein Coding gene. Diseases associated with CCT5 include hereditary sensory and autonomic neuropathy with spastic paraplegia and autosomal recessive sensory neuropathy with spastic paraplegia. Among its related pathways are Organelle biogenesis and maintenance and Transport to the Golgi and subsequent modification. GO annotations related to this gene include unfolded protein binding and G-protein beta-subunit binding.
UniProtKB/Swiss-Prot for CCT5 Gene
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.