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。该基因位于7kb端粒到基因家族成员abcb2。这个基因编码的蛋白质与抗原提呈有关。该蛋白与abcb2形成异二聚体，以便将肽从细胞质运输到内质网。该基因突变可能与强直性脊柱炎、胰岛素依赖性糖尿病和腹腔疾病有关。该基因的选择性剪接产生的产物在多肽选择性和mhcⅠ类分子表面表达的恢复水平上存在差异。[由RefSeq提供，2014年2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. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]