Primary Identifier | MGI:97528 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 18591 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including platelet-derived growth factor binding activity; protein dimerization activity; and receptor ligand activity. Involved in several processes, including cellular response to platelet-derived growth factor stimulus; metanephric glomerulus vasculature development; and paracrine signaling. Acts upstream of or within several processes, including nervous system development; salivary gland morphogenesis; and vasculature development. Predicted to be located in several cellular components, including basolateral plasma membrane; cell surface; and neuronal cell body. Predicted to be part of platelet-derived growth factor complex. Predicted to be active in extracellular space. Is expressed in several structures, including alimentary system; cardiovascular system; extraembryonic component; female reproductive system; and nervous system. Human ortholog(s) of this gene implicated in several diseases, including basal ganglia calcification; clear cell renal cell carcinoma; dermatofibrosarcoma protuberans; familial meningioma; and high grade glioma (multiple). Orthologous to human PDGFB (platelet derived growth factor subunit B). PHENOTYPE: Homozygotes for targeted null mutations exhibit absence of microvascular pericytes, capillary aneurisms, endothelial hyperplasia, edema, hemorrhages, erythroblastosis, macrocytic anemia, thrombocytopenia, kidney defects, and perinatal lethality. [provided by MGI curators] |