Primary Identifier | MGI:104580 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 107746 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within several processes, including activation of GTPase activity; negative regulation of signal transduction; and platelet-derived growth factor receptor signaling pathway. Predicted to be located in early endosome; perinuclear region of cytoplasm; and phagocytic vesicle membrane. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and immune system. Orthologous to human RAPGEF1 (Rap guanine nucleotide exchange factor 1). PHENOTYPE: Mice homozygous for a null allele die before E7.5. Mice homozygous for a hypomorphic gene trap allele show embryonic lethality during organogenesis, altered neuroepithelium morphology, vascular maturation defects, hemorrhage, and reduced cell migration and adhesion. [provided by MGI curators] |