Primary Identifier | MGI:1333857 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 12549 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase activator activity and SH3 domain binding activity. Acts upstream of or within small GTPase-mediated signal transduction. Located in lamellipodium. Is expressed in several structures, including 1st branchial arch; brain vascular element; heart; retina layer; and surface ectoderm. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and coronary artery disease. Orthologous to human ARHGAP31 (Rho GTPase activating protein 31). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial lethality during fetal growth through weaning and abnormal vascular development associated with subcutaneous edema and hemorrhages, pale meninges and liver, and reduced VEGF-mediated capillary sprouting from aortic ring explants. [provided by MGI curators] |