产品标准

浓缩液(1mg/1ml) 亲和纯化抗体

产品应用

WB=1:100-500 Elisa =1:200-1000 IP=1:20-100 IHC=1:100-500    （石蜡切片需做抗原修复）

产品介绍

   多囊肾（polycystic kidney disease）为遗传性疾病，是肾脏一种先天性异常。双侧肾脏披髓质均可累及，但在程度上可不同。在遗传方式上表现为常染色体显性和常染色体隐性遗传两种。
    囊内上皮细胞异常增殖是ADPKD的显著特特之一，处于一种成熟不完全或重发育状态，高度提示为细胞的发育成熟调控出现障碍，使细胞处于一种未成熟状态，从而显示强增殖性。表现为细胞转运密切相关的Na+-K+-ATP ase的亚单位组合，分布及活性表达的改变；细胞信号传导异常以及离子转运通道的变化。细胞外基质异常增生是ADPKD第三种显著特征。目前许多研究已证明：这些异常均有与细胞生长有关的活性因子的参与。但关键的异常环节和途径尚未明了。因基因缺陷而致的细胞生长改变和间质形成异常，是本病的重要发病机制之一。

    This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq].
    mol wt:466kDa
    Other Aliases:
    Autosomal dominant polycystic kidney disease protein 1; PBP; PKD; PKD1; Polycystic Kidney Disease 1; Polycystin 1 Precursor; PKD1; Pc-1; TRPP1