CCT7 Chromosome 2

Chaperonin containing TCP1 subunit 7
1 variant 1 Health Risk

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What This Gene Does
This gene encodes 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. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Chaperonin containing TCP1
Locus Type
gene with protein product
Location
2p13.2
Ensembl
ENSG00000135624
Associated Conditions (3)
Myocardial infarction
susceptibility to
1
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS587777929 Health Risk Pathogenic Myocardial infarction, susceptibility to, 1
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