MAP10

Chr 1

microtubule associated protein 10

Also known as: KIAA1383, MTR120

NCBI Gene: 54627 ENSG00000212916 UniProt: Q9P2G4

The protein is a microtubule-associated protein that promotes microtubule stability and participates in spindle midzone organization during cell division. Mutations cause neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, inherited in an autosomal recessive pattern. The gene shows extremely high constraint against loss-of-function variants (pLI ~1), indicating that such variants are likely to be pathogenic when present in the homozygous or compound heterozygous state.

ResearchSummary from RefSeq, UniProt

Enables microtubule binding activity. Involved in microtubule cytoskeleton organization; positive regulation of cytokinesis; and regulation of microtubule-based process. Located in microtubule cytoskeleton and midbody. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

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Mechanism

Some data sources returned errors (1)