TCP1

Chr 6

t-complex 1

Also known as: CCT-alpha, CCT1, CCTa, D6S230E, IDDPMGS, TCP-1-alpha

NCBI Gene: 6950 ENSG00000120438 UniProt: P17987

The TCP1 protein is a molecular chaperone that forms part of the TRiC complex, which folds critical cellular proteins including actin and tubulin in an ATP-dependent manner. Mutations cause autosomal dominant intellectual developmental disorder with polymicrogyria and seizures. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.26), reflecting its essential cellular role.

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 of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder with polymicrogyria and seizures

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

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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