TBCE
Chr 1ARtubulin folding cofactor E
Also known as: HRD, KCS, KCS1, PEAMO, pac2
Cofactor E binds to the cofactor D/beta-tubulin complex and facilitates the release of correctly folded beta-tubulin committed to the native state, functioning as part of the tubulin folding pathway. Biallelic mutations cause autosomal recessive conditions including progressive encephalopathy with amyotrophy and optic atrophy, hypoparathyroidism-retardation-dysmorphism syndrome, and Kenny-Caffey syndrome type 1. The pathogenic mechanism appears to be dominant negative, disrupting proper microtubule formation essential for cellular structure and function.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBCE · 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