基因名称：TAP1 （transporter 1, ATP binding cassette subfamily B member）
别名： APT1,PSF1,ABC17,ABCB2,PSF-1,RING4,TAP1N,D6S114E,TAP1*0102N
基因ID：6890
Chromosome(GRCh37) ：6 Start: 32812986 End: 32821748 Strand:
信号通路：
靶向药：
化疗药：
简介：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。由该基因编码的蛋白质参与将降解的胞浆肽穿过内质网泵入I类分子聚集的膜结合室。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。已经发现了两个编码不同亚型的转录变体。[由RefSeq提供，2014年5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. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
TAP1突变与药物：
