PDGFB
小结
PDGFB编码蛋白是血小板衍生生长因子亚基B,是由血小板衍生生长因子(PDGF)和血管内皮生长因子(VEGF)组成的蛋白家族的成员。PDGFB可发生同型二聚作用,或与相关的血小板衍生生长因子亚基A发生异源二聚作用。这些蛋白结合并激活PDGF受体酪氨酸激酶。PDGFB的突变与脑膜瘤相关。由于染色体22和17之间的相互易位,PDGFB可能与皮肤纤维肉瘤(一种罕见的皮肤肿瘤)相关。
This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants.