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。这种蛋白质被认为在心脏、骨骼、血管和非血管平滑肌中形成atp敏感性钾通道。蛋白质结构提示其可能是胰外atp敏感性钾通道的药物结合通道调节亚单位。该基因突变与扩张型心肌病1O相关。选择性剪接导致多个转录变异[由RefSeq提供,2011年4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 thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

基因名:ABCC9
别名:SUR2,ABC37,CANTU,CMD1O,ATFB12
基因ID:10060
Chromosome:
(GRCh37)
12 Start: 21950323 End: 22094797 Strand: 
信号通路:  
ABCC9 基因突变与药物