PDGFRA Antibody – Mouse Monoclonal

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

PDGFRA: a receptor tyrosine kinase of the PDGFR family that binds members of the platelet-derived growth factor family. The identity of the growth factor bound determines whether the functional receptor is a homodimer or a heterodimer, composed of both PDGFR-alpha and -beta. Ligand binding induces receptor dimerization and autophosphorylation. Particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. Chromosomal rearrangments activate PDGFRalpha by fusion to BCR, causing atypical chronic myelogenous leukemia (CML), and to FIP1L1, causing idiopathic hypereosinophilic syndrome. Activating point mutations cause a minority of gastrointestinal stromal tumors (GIST). Promoter polymorphisms linked to neural tube defects including spina bifida, verified by mouse mutant model. Inhibitors: Gleevec, Sutent. OMIM: Two alternatively-spliced isoforms have been described.

Protein type: EC 2.7.10.1; Kinase, protein; Membrane protein, integral; Oncoprotein; PDGFR family; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group

Chromosomal Location of Human Ortholog: 4q12

Cellular Component: cytoplasm; integral to plasma membrane; intrinsic to plasma membrane; membrane; nucleus; plasma membrane; protein complex

Molecular Function: phosphatidylinositol-4,5-bisphosphate 3-kinase activity; platelet-derived growth factor alpha-receptor activity; platelet-derived growth factor binding; platelet-derived growth factor receptor binding; protein binding; protein homodimerization activity; protein kinase activity; Ras guanyl-nucleotide exchange factor activity; transmembrane receptor protein tyrosine kinase activity; vascular endothelial growth factor receptor activity

Biological Process: cardiac myofibril assembly; cell activation; elevation of cytosolic calcium ion concentration; embryonic cranial skeleton morphogenesis; embryonic digestive tract morphogenesis; embryonic skeletal morphogenesis; luteinization; MAPKKK cascade; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; platelet-derived growth factor receptor signaling pathway; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of DNA replication; positive regulation of fibroblast proliferation; positive regulation of phosphoinositide 3-kinase activity; positive regulation of phosphoinositide 3-kinase cascade; protein amino acid autophosphorylation; regulation of chemotaxis; regulation of phosphoinositide 3-kinase cascade; wound healing

Disease: Gastrointestinal Stromal Tumor; Hypereosinophilic Syndrome, Idiopathic