PKD1

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, Oct 2008]

本基因编码多囊蛋白家族的一员。编码的糖蛋白含有一个庞大的N端细胞外区域、多个跨膜结构域以及一个细胞质C端尾部。该蛋白作为一种整合膜蛋白，充当钙离子通透性阳离子通道和细胞内钙稳态的调节因子。此外，它还参与细胞与细胞/基质相互作用，并可能调节G蛋白偶联信号转导途径。该基因在肾小管发育中发挥着作用，且该基因的突变会导致常染色体显性多囊肾病1型（ADPKD1）。ADPKD1以充满液体的囊肿生长取代正常肾组织为特征，最终导致终末期肾衰竭。该基因已发现存在不同的剪接变异体，编码不同的异构体。此外，还描述了六个假基因，它们紧密连锁于16p染色体上已知的重复区域。[由RefSeq提供，2008年10月]