Primary Identifier | MGI:2385189 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 229877 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase regulator activity. Acts upstream of or within several processes, including angiotensin-activated signaling pathway involved in heart process; negative regulation of GTPase activity; and regulation of matrix metallopeptidase secretion. Located in extracellular space. Is expressed in several structures, including central nervous system; glans of male genital tubercle; lens; liver; and retina nuclear layer. Orthologous to human RAP1GDS1 (Rap1 GTPase-GDP dissociation stimulator 1). PHENOTYPE: About 70% of homozygotes for a knock-out mutation die of heart failure shortly after birth due to massive cardiomyocyte apoptosis triggered by cardiovascular overload. Neonatal thymocytes and developing neuronal cells undergo apoptosis while cultured thymocytes are susceptible to apoptotic inducers. [provided by MGI curators] |