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FLASH GENE

Symbol

MAP2K1

contributors: mct/pgu - updated : 14-04-2017

HGNC name	mitogen-activated protein kinase kinase 1
HGNC id	6840

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CFC3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       missense mutation in CFC tumoral somatic mutation       in melanomas constitutional somatic mutation       are a common cause of extracranial arteriovenous malformation (AVM) tumoral somatic mutation       in BRAF V600E-negative Langerhans cell histiocytosis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	is a promising prognostic biomarker candidate correlated to response to platinum based chemotherapy in ovarian cancer
Therapy target
	System Type Disorder Pubmed miscelleaneous vascular   . MEK1 inhibitors, which are approved to treat several forms of cancer, are potential therapeutic agents for individuals with extracranial Arteriovenous malformation (AVM) diabete type 2   MAP2K1 signaling pathway could be a novel therapeutic target for novel antidiabetic agents

ANIMAL & CELL MODELS

The null mutation of the mouse Mek1 gene by insertional mutagenesis was recessive lethal, and homozygous mutant embryos died at 10.5 days of gestation. Histopathologic analysis revealed a marked decrease of vascular endothelial cells in the labyrinthine region, resulting in reduced vascularization of the placenta. Failure to establish a functional placenta was considered a likely cause of embryonic death.