Primary Identifier | MGI:2652860 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 269608 |
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. Involved in endothelial cell chemotaxis and regulation protein catabolic process at presynapse. Acts upstream of or within endothelial cell migration. Located in several cellular components, including cell-cell junction; endocytic vesicle; and lamellipodium. Is expressed in brain; cardiovascular system; liver; and testis. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and autosomal recessive distal hereditary motor neuronopathy 4. Orthologous to human PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5). PHENOTYPE: Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact. [provided by MGI curators] |