CCT2 Chromosome 12
Chaperonin containing TCP1 subunit 2
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What This Gene Does
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
Chaperonin containing TCP1
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000166226
Associated Conditions (1)
Leber congenital amaurosis
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757710808 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Leber congenital amaurosis |
| RS762366874 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Leber congenital amaurosis |