这个基因编码多囊蛋白家族的一个成员。编码蛋白是一种多程膜蛋白,具有钙离子通道的功能,参与肾上皮细胞钙离子转运和钙信号转导该蛋白与多囊蛋白1相互作用,它们可能是参与肾小管形态发生的共同信号级联的伙伴。该基因突变与常染色体显性遗传多囊肾病2型相关[由RefSeq提供,2011年3月]
This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

基因名:PKD2
别名:PC2,PKD4,Pc-2,APKD2,TRPP2
基因ID:5311
Chromosome:
(GRCh37)
4 Start: 88928799 End: 88998931 Strand: 
信号通路:  
PKD2 基因突变与药物

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