菜单 基因医生

该基因编码的蛋白质是atp结合盒(abc)转运蛋白超家族的成员。abc蛋白通过细胞外和细胞内的膜运输各种分子。abc基因分为七个不同的亚家族(abc1,mdr/tap,mrp,ald,oabp,gcn20,white)。该蛋白是mrp亚家族的一员,参与多药耐药。这种蛋白在肝细胞的小管(顶端)部分表达,在胆汁转运中发挥作用。底物包括长春碱等抗癌药物;因此,这种蛋白质似乎有助于哺乳动物细胞的耐药性。dubin-johnson综合征(djs)是一种以高胆红素血症为特征的常染色体隐性遗传疾病。[由RefSeq提供,2008年7月]
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]

基因名:ABCC2
别名:DJS,MRP2,cMRP,ABC30,CMOAT
基因ID:1244
Chromosome:
(GRCh37)
10 Start: 101542457 End: 101611662 Strand: 
信号通路: 基因组不稳定  能量代谢 
ABCC2 基因突变与药物