TUBGCP6
Chr 22ARtubulin gamma complex component 6
Also known as: GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR
TUBGCP6 encodes a component of the gamma-tubulin ring complex (gTuRC) that mediates microtubule nucleation at the centrosome, which is critical for centrosome duplication and spindle formation. Biallelic mutations cause microcephaly and chorioretinopathy, autosomal recessive, 1, affecting both brain development and retinal structure. This follows autosomal recessive inheritance and has an associated GeneReviews entry for additional clinical guidance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 0 | 3 | 0 | 8 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 1 | 23 | 4 | 0 | 28 |
Likely Benign | 0 | 0 | 18 | 42 | 60 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 9 | 23 | 26 | 42 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TUBGCP6 · 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