菜单 基因医生

该基因编码的膜相关蛋白是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)。这种蛋白质是mdr/tap亚家族的一员。mdr/tap亚家族成员参与多药耐药和抗原递呈。该基因编码以卵磷脂为底物的膜蛋白p-糖蛋白家族的一个全转运体和成员。这种蛋白质的功能尚未确定,但它可能涉及磷脂从肝细胞运输到胆汁。这个基因的选择性剪接导致了一些功能不确定的产物。[由RefSeq提供,2008年7月]
The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]

基因名:ABCB4
别名:GBD1,ICP3,MDR2,MDR3,PGY3,ABC21,MDR2/3,PFIC-3
基因ID:5244
Chromosome:
(GRCh37)
7 Start: 87031361 End: 87105019 Strand: 
信号通路:  
ABCB4 基因突变与药物