MAST3

Chr 19AD

microtubule associated serine/threonine kinase 3

Also known as: DEE108

NCBI Gene: 23031 ENSG00000099308 UniProt: O60307 OMIM: 612258

This gene encodes a serine/threonine kinase that regulates cytoskeleton organization and intracellular signal transduction. Mutations cause developmental and epileptic encephalopathy 108, inherited in an autosomal dominant pattern, predominantly through loss-of-function mechanisms. The gene shows extreme intolerance to loss-of-function variants, consistent with haploinsufficiency being pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, Mechanism

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Predicted to be active in microtubule cytoskeleton. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 108MIM #620115

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.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

0.22

LOEUF· LoF intol.

GOF*

Mechanism· G2P