CCT5
Chr 5ARchaperonin containing TCP1 subunit 5
Also known as: CCT-epsilon, CCTE, HEL-S-69, HSNSP, PNAS-102, TCP-1-epsilon
The CCT5 protein is a component of the chaperonin-containing T-complex (TRiC) that assists in folding actin, tubulin, and other proteins in an ATP-dependent manner. Mutations cause hereditary sensory neuropathy with spastic paraplegia, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants, indicating it is essential for normal cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCT5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools