PKD2
收藏rgd.mcw.edu2025-01-22 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1353787
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资源简介：
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]
本基因编码多囊素蛋白家族的成员。所编码的蛋白是一种多跨膜蛋白，充当钙离子通透性阳离子通道，并在肾上皮细胞中的钙离子转运和钙信号传导中发挥作用。该蛋白与多囊素1相互作用，它们可能在涉及管状形态发生的共同信号级联反应中构成合作伙伴关系。该基因的突变与常染色体显性多囊肾病2型相关。[由RefSeq提供，2011年3月]
提供机构：
Rat Genome Database
