TBC1D30

Chr 12

TBC1 domain family member 30

NCBI Gene: 23329 ENSG00000111490 UniProt: Q9Y2I9 OMIM: 615077

The protein acts as a GTPase-activating protein for Rab family proteins and regulates cilium assembly. Mutations cause autosomal recessive intellectual disability with seizures and brain abnormalities, typically presenting in infancy or early childhood. This gene is highly constrained against loss-of-function variants (pLI 0.89, LOEUF 0.35), indicating intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Located in ciliary basal body and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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