Primary Identifier | MGI:88190 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 109880 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase activity. Involved in postsynaptic modulation of chemical synaptic transmission and protein phosphorylation. Acts upstream of or within several processes, including hemopoiesis; negative regulation of apoptotic process; and positive regulation of cellular component organization. Located in several cellular components, including cell body; mitochondrion; and neuron projection. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study Langerhans-cell histiocytosis; cardiofaciocutaneous syndrome; melanoma (multiple); papillary thyroid carcinoma; and prostate cancer. Human ortholog(s) of this gene implicated in several diseases, including Noonan syndrome 7; carcinoma (multiple); cardiofaciocutaneous syndrome (multiple); central nervous system benign neoplasm (multiple); and melanoma (multiple). Orthologous to human BRAF (B-Raf proto-oncogene, serine/threonine kinase). PHENOTYPE: Homozygous null embryos die during organogenesis, are smaller, have enlarged blood vessels, hemorrhaging, poor circulation, slow heartbeat and abnormal endothelial cell development. Mice homozygous for a targeted allele activated in neurons exhibit impaired neuronal differentiation. [provided by MGI curators] |