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1型血栓素(TS-1)基序这个家族的个别成员在c-末端ts-1基序的数目上不同,并且有些具有独特的c-末端结构域。该基因编码的酶含有8个ts-1基序。它可能在胎儿发育过程中的肺细胞中发挥作用,或通过其蛋白水解酶活性在肿瘤过程中发挥作用,或作为一种可能参与细胞粘附调节的分子发挥作用。[由RefSeq提供,2008年7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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]

基因名:ADAMTS12
别名:PRO4389
基因ID:81792
Chromosome:
(GRCh37)
5 Start: 33523640 End: 33892319 Strand: 
信号通路:  
ADAMTS12 基因突变与药物