Gene Symbol | PDGFRA |
Entrez Gene ID | 5156 |
Full Name | platelet derived growth factor receptor alpha |
Synonyms | CD140A,PDGFR-2,PDGFR2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) |