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FLASH GENE

Symbol

MAPK1

contributors: mct/shn - updated : 06-10-2020

HGNC name	mitogen-activated protein kinase 1
HGNC id	6871

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL22Q11D , NNLES

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       Thr188 phosphorylation initiates hypertrophy in cardiomyocytes and is present in failing human hearts tumoral somatic mutation       in ovarian mixed germ cell tumors

Susceptibility

Variant & Polymorphism

Candidate gene	for low birth weight in distal 22q11.2 deletion syndrome
Marker
Therapy target

ANIMAL & CELL MODELS

	knockout studies including MAPK1 revealed some
	associations with abnormal placental development, leading
	to intrauterine growth restriction and intrauterine
	death of null mice
	disrupted Mapk1/mapk3 in mouse granulosa cells provide in vivo evidence that these kinases are necessary for LH-induced oocyte resumption of meiosis, ovulation, and luteinization
	double knock-out newborn pups for Erk1 and Erk2 survived for not more one day, appeared normal just after parturition, displayed intracerebral hemorrhages with varying location and severity, ventricular zones and corpus callosum did not develop properly and nuclear morphology in some brain regions were markedly aberrant (
	double knock-out mice deficient for Erk2 in the central nervous system, with ubiquitous homozygous deletion of Erk1 were neonatally lethal (