菜单 基因医生

这个基因编码XV型胶原的α链,它是FACIT胶原家族的一员(与纤维相关的具有间断螺旋的胶原)xv型胶原具有广泛的组织分布,但最强的表达定位于基底膜区,因此它可能起到将基底膜粘附到下层结缔组织基质的作用。蛋白水解产生的xv型胶原c末端片段是restin,一种潜在的抗血管生成蛋白,与内皮抑素密切相关。小鼠研究表明,胶原XV缺乏与肌肉和微血管恶化有关[由RefSeq提供,2013年5月]
This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]

基因名:COL15A1
别名:
基因ID:1306
Chromosome:
(GRCh37)
9 Start: 101705995 End: 101833074 Strand: 
信号通路:  
COL15A1 基因突变与药物