TUBGCP3

Chr 13

tubulin gamma complex component 3

Also known as: 104p, ALP6, GCP3, Grip104, SPBC98, Spc98, Spc98p

NCBI Gene: 10426 ENSG00000126216 UniProt: Q96CW5

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.

ResearchSummary from RefSeq, UniProt

Enables gamma-tubulin binding activity. Predicted to be involved in meiotic cell cycle; microtubule cytoskeleton organization; and mitotic cell cycle. Located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF

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Mechanism

Some data sources returned errors (1)

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