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蛋白通过细胞内外膜运输各种分子。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abc1亚家族的一员。abc1亚家族的成员是唯一在多细胞真核生物中发现的主要abc亚家族。编码蛋白可能调节脂质代谢,参与髓鞘的形成和维持选择性剪接导致多个转录变体[由RefSeq提供,2014年1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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

基因名:ABCA8
别名:
基因ID:10351
Chromosome:
(GRCh37)
17 Start: 66863428 End: 66951550 Strand: 
信号通路:  
ABCA8 基因突变与药物