MAST1

Chr 19

microtubule associated serine/threonine kinase 1

Also known as: MCCCHCM, SAST

NCBI Gene: 22983 ENSG00000105613 UniProt: Q9Y2H9

MAST1 encodes a microtubule-associated serine/threonine kinase that promotes microtubule stabilization and is required for proper cytoplasmic microtubule organization and chromosome alignment during cell division. Mutations cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, following autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that most loss-of-function mutations are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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