Primary Identifier | MGI:1333849 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 19395 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction; cellular response to calcium ion; and positive regulation of GTPase activity. Predicted to be located in cytosol. Predicted to be active in plasma membrane. Is expressed in brain; embryo; and telencephalon. Used to study leukocyte adhesion deficiency 3. Human ortholog(s) of this gene implicated in platelet-type bleeding disorder 18. Orthologous to human RASGRP2 (RAS guanyl releasing protein 2). PHENOTYPE: Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection. [provided by MGI curators] |