CCT3
Chr 1ADchaperonin containing TCP1 subunit 3
Also known as: CCT-gamma, CCTG, NEDSVH, PIG48, TCP-1-gamma, TRIC5
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
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
CCT3 · 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