TUBG1

Chr 17

tubulin gamma 1

Also known as: CDCBM4, GCP-1, TUBG, TUBGCP1

NCBI Gene: 7283ENSG00000131462UniProt: P23258

This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCortical dysplasia, complex, with other brain malformations 4

Clinical highlights

Gene-disease validity (ClinGen)
lissencephaly spectrum disorders · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
DN
Mechanism· predicted
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GeneReview available — TUBG1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.52LOEUF
pLI 0.129
Z-score 3.27
OE 0.26 (0.14–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
4.16Z-score
OE missense 0.30 (0.25–0.36)
82 obs / 276.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.26 (0.14–0.52)
0≤0.351.4
Missense OE?0.30 (0.25–0.36)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 6 / 22.9Missense obs/exp: 82 / 276.4Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

VCEP specificationsBrain MalformationsReleased
Specifications ↗Panel ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients