菜单 基因医生

该基因编码ADAMTS(一种具有血小板反应蛋白基序的去整合素和金属蛋白酶)蛋白家族的成员。家族成员共享几个不同的蛋白质模块,包括一个预肽区、一个金属蛋白酶结构域、一个类去整合素结构域和一个血栓反应蛋白1型(TS)基序这个家族的个别成员在c-末端ts基序的数目上不同,有些成员具有独特的c-末端结构域。编码的前蛋白经蛋白质水解处理生成成熟酶。这种酶含有两个C-末端TS基序,作为一种aggrecan酶,可切割软骨的主要蛋白聚糖aggrecan,并可能介导骨关节炎中的软骨破坏[由RefSeq提供,2016年2月]
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]

基因名:ADAMTS5
别名:ADMP-2,ADAM-TS5,ADAMTS-5,ADAMTS11,ADAMTS-11,ADAM-TS11
基因ID:11096
Chromosome:
(GRCh37)
21 Start: 28290231 End: 28339439 Strand: 
信号通路:  
ADAMTS5 基因突变与药物