菜单 基因医生

该基因是基质金属蛋白酶(MMP)基因家族的成员,是锌依赖性酶,能够切割细胞外基质的成分和参与信号转导的分子。该基因编码的蛋白是一种胶原酶A,IV型胶原酶,在其催化位点包含三个纤维连接蛋白II型重复序列,允许变性的IV型和V型胶原和弹性蛋白结合。与大多数MMP家族成员不同,这种蛋白的活化可以发生在细胞膜上。这种酶可以通过蛋白酶在细胞外激活,也可以通过S-谷胱甘肽在细胞内激活,而不需要蛋白质水解去除原结构域。这种蛋白被认为参与多种途径,包括在神经系统、子宫内膜月经破裂、血管化调节和转移中的作用。该基因突变与温彻斯特综合征和结节性关节病骨溶解(NAO)综合征有关。选择性剪接导致编码不同亚型的多个转录变体。
This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

基因名:MMP2
别名:CLG4,CLG4A,MMP-2,MMP-II,MONA,TBE-1
基因ID:4313
Chromosome:
(GRCh37)
16 Start: 55423612 End: 55540603 Strand: 1
信号通路:  
靶向药: 贝伐单抗 
化疗药:
MMP2 基因突变与药物