CCT3

Chr 1

chaperonin containing TCP1 subunit 3

Also known as: CCT-gamma, CCTG, NEDSVH, PIG48, TCP-1-gamma, TRIC5

NCBI Gene: 7203 ENSG00000163468 UniProt: P49368

CCT3 encodes a component of the chaperonin-containing T-complex (TRiC), a molecular chaperone that assists ATP-dependent folding of actin, tubulin, and other proteins essential for cellular function. Mutations cause autosomal dominant neurodevelopmental disorder with speech or visual impairment and brain hypomyelination. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.097), indicating intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

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. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with speech or visual impairment and brain hypomyelination

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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