Primary Identifier | MGI:1314635 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 19419 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including cation binding activity; diacylglycerol binding activity; and guanyl-nucleotide exchange factor activity. Involved in activation of GTPase activity; positive regulation of T cell differentiation in thymus; and positive regulation of natural killer cell differentiation. Acts upstream of or within several processes, including mast cell degranulation; regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and vesicle transport along microtubule. Predicted to be located in Golgi apparatus and cytosol. Predicted to be active in plasma membrane. Is expressed in several structures, including brain and olfactory epithelium. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in immunodeficiency 64. Orthologous to human RASGRP1 (RAS guanyl releasing protein 1). PHENOTYPE: Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes. [provided by MGI curators] |