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FLASH GENE
Symbol MAP3K1 contributors: mct/npt/pgu - updated : 15-10-2018
HGNC name mitogen-activated protein kinase kinase kinase 1
HGNC id 6848
ASSOCIATED DISORDERS
corresponding disease(s) XYDSDM
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
tumoral     --low  
led to a potent inhibition on the invasion and migration of human pancreatic adenocarcinoma
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerdigestivepancreas
may be a potential target for development of anti-invasion and metastasis drugs in pancreatic cancer
ANIMAL & CELL MODELS
  • Mekk1 knockout mice; Map3k1 within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination
  • mice lacking Map3k1 are fertile and exhibit no overt abnormalities of testis development
  • Map3K1-deficient mice exhibit increased proliferation and apoptosis, and Muller glial cell overproduction in the developing retinas