更多...
收起
Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]
[中文简述(自动翻译):]  人类血小板糖蛋白V(GP5)是构成用于冯维勒布兰德因子的受体表面糖蛋白的的Ib-V-IX系统的一部分(vWF; MIM 613160),并介导对在受伤的血管表面的血小板的粘附动脉循环,在止血中的关键起始事件。该受体的主要部分是一个的2条多肽链,α-链组成的异二聚体(GP1BA; MIM 606672)和一个β链(GP1BB; MIM 138720),由二硫键连接。完整的受体复合物包括α和β亚基与血小板膜糖蛋白IX的非共价结合(GP9; MIM 173515)和GP5。在GP1BA,GP1BB和GP9突变已显示导致巨大血小板综合征(MIM 231200),出血性疾病(审查Lopez等人,1998 [搜索PubMed 9616133])。[由OMIM,2010年11月供给]
GP5基因(以及对应的蛋白质)的细胞分布位置:
GP5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Thrombocytopenia | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Bernard-Soulier Syndrome | 0.001085767 | 4 | 0 | BeFree |
Brooke-Spiegler syndrome | 0.000814326 | 3 | 0 | BeFree |
Blood Platelet Disorders | 0.000271442 | 1 | 0 | BeFree |
Coronary Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Varicella zoster | 0.000271442 | 1 | 0 | BeFree |
Persistent infection | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。