TUBGCP3
Chr 13tubulin gamma complex component 3
The TUBGCP3 protein is a component of the gamma-tubulin ring complex that mediates microtubule nucleation, which is critical for centrosome duplication and spindle formation during cell division. Mutations cause microcephaly and chorioretinopathy, autosomal recessive, an early-onset disorder affecting brain development and the retina. This gene is highly constrained against loss-of-function variants (LOEUF 0.35), reflecting its essential role in cellular processes.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUBGCP3 · 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