Primary Identifier | MGI:1346866 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 26395 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables MAP kinase kinase activity and protein serine/threonine kinase activity. Involved in MAPK cascade; cell surface receptor protein tyrosine kinase signaling pathway; and nervous system development. Acts upstream of with a positive effect on type B pancreatic cell proliferation. Acts upstream of or within several processes, including nervous system development; regulation of neuron projection development; and respiratory system development. Predicted to be located in several cellular components, including dendrite cytoplasm; perikaryon; and perinuclear region of cytoplasm. Predicted to be active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including alimentary system; blastocyst; brain; genitourinary system; and sensory organ. Used to study cardiofaciocutaneous syndrome. Human ortholog(s) of this gene implicated in carcinoma (multiple); cardiofaciocutaneous syndrome 3; high grade glioma; and melorheostosis. Orthologous to human MAP2K1 (mitogen-activated protein kinase kinase 1). PHENOTYPE: Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration. [provided by MGI curators] |