TUBB6
Chr 18ADtubulin beta 6 class V
Also known as: FPVEPD, HsT1601, TUBB-5
TUBB6 encodes a beta-tubulin protein that forms microtubules through polymerization with alpha-tubulin, serving as a major structural component of the cellular cytoskeleton and mitotic spindle. Mutations cause autosomal dominant congenital fibrosis of the extraocular muscles type 4 (CFEOM4), characterized by restrictive ophthalmoplegia and ptosis present from birth. The gene shows low constraint to loss-of-function variation, suggesting the pathogenic variants likely affect protein function through other mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUBB6 · 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