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CCT6A

Chr 7p11.2

chaperonin containing TCP1 subunit 6A

Aliases:
TTCP20, TCPZ, Cctz, HTR3, TCP20
MANE:
ENST00000275603.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder

    0.37
  • neurodegenerative disease

    0.34
  • ulcer of lower limb

    0.26
  • leg injury

    0.22
  • coronary artery disorder

    0.20
  • complex neurodevelopmental disorder

    0.18
  • diabetic neuropathy

    0.13
  • peripheral neuropathy

    0.12
  • neoplasm

    0.11
  • colorectal carcinoma

    0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

T-complex protein 1 subunit zeta

Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.