Primary Identifier | MGI:96224 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 15461 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTP binding activity and protein-membrane adaptor activity. Involved in several processes, including Ras protein signal transduction; insulin receptor signaling pathway; and nervous system development. Acts upstream of or within several processes, including defense response to protozoan; intracellular signal transduction; and oncogene-induced cell senescence. Predicted to be located in Golgi apparatus; cytosol; and nucleoplasm. Predicted to be part of GTPase complex. Predicted to be active in glutamatergic synapse and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early embryo; genitourinary system; and sensory organ. Used to study Costello syndrome; high grade glioma; and malignant astrocytoma. Human ortholog(s) of this gene implicated in several diseases, including Costello syndrome; autistic disorder; carcinoma (multiple); epidermal nevus; and large congenital melanocytic nevus. Orthologous to human HRAS (HRas proto-oncogene, GTPase). PHENOTYPE: Mice homozygous for targeted null mutations are viable and fertile with no gross morphological or histological abnormalities, defects in neuronal development or defects in lymphocyte cell populations. A decreased susceptibility to DMBA induced skin papillomas was also demonstrated. [provided by MGI curators] |