Symbol
| MAP3K1
| contributors: mct/npt/pgu - updated : 15-10-2018
|
HGNC name
| mitogen-activated protein kinase kinase kinase 1
|
HGNC id
| 6848
|
corresponding disease(s)
|
XYDSDM
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | digestive | pancreas | |
may be a potential target for development of anti-invasion and metastasis drugs in pancreatic cancer |
| | | |
| 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 |