PKMYT1

Chr 16

protein kinase, membrane associated tyrosine/threonine 1

Also known as: MYT1, PPP1R126

NCBI Gene: 9088 ENSG00000127564 UniProt: Q99640 OMIM: 602474

The protein encoded by this gene is a membrane-associated serine/threonine kinase that negatively regulates cell cycle progression by phosphorylating and inactivating cyclin-dependent kinase 1, thereby controlling the transition from G2 phase to mitosis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with severe seizures and developmental delays. The gene shows moderate tolerance to loss-of-function variants, and the associated disorder primarily affects the central nervous system with prominent neurodevelopmental features.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

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

0.52

LOEUF

Multiple*

Mechanism· predicted