TUBG1
Chr 17ADtubulin gamma 1
Also known as: CDCBM4, GCP-1, TUBG, TUBGCP1
The protein is gamma-tubulin, a key component of the gamma-tubulin ring complex that mediates microtubule nucleation at the centrosome, which is critical for centrosome duplication and spindle formation during cell division. Mutations cause cortical dysplasia with complex brain malformations and follow an autosomal dominant inheritance pattern. The gene is moderately constrained against loss-of-function variants (LOEUF 0.52), reflecting its essential role in cellular division and brain development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUBG1 · 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