基因名:
HSPG2
产品别名:
HSPG; PLC; PRCAN; SJA; SJS; SJS1; HSPG2; heparan sulfate proteoglycan 2; heparan sulfate proteoglycan 2; basement membrane-specific heparan sulfate proteoglycan core protein; endorepellin (domain V region); perlecan proteoglycan; 硫酸乙酰肝素蛋白多糖2; 硫酸肝素蛋白聚糖(HSPG); 硫酸肝素蛋白聚糖2(HSPG2);
背景信息:
This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans(heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and Transthyretin, etc. and plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and Tardive dyskinesia.[provided by RefSeq, Mar 2010].