MAPK12

Chr 22

mitogen-activated protein kinase 12

Also known as: ERK-6, ERK3, ERK6, MAPK 12, P38GAMMA, PRKM12, SAPK-3, SAPK3

NCBI Gene: 6300 ENSG00000188130 UniProt: P53778

MAPK12 encodes p38-gamma, a serine/threonine kinase that transduces extracellular stress signals and inflammatory cytokine responses, playing essential roles in myoblast differentiation, cell cycle regulation, and DNA damage repair. Pathogenic variants cause autosomal recessive developmental and epileptic encephalopathy with microcephaly and simplified gyral pattern, typically presenting in early infancy with severe developmental delays and intractable seizures. The gene shows no intolerance to loss-of-function variants in the general population (pLI near zero), consistent with a recessive inheritance pattern where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, UniProt

Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.99

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)