2024年12月25日 · PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2 include Polycystic Kidney Disease 2 With Or …

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The …

More than 75 mutations in the PKD2 gene have been identified in people with polycystic kidney disease. These mutations are responsible for about 15 percent of all cases of autosomal …

PKD2 and PKD1 genes are mutated in autosomal dominant polycystic kidney disease. PKD2 can form either a homomeric cation channel or a heteromeric complex with the PKD1 receptor, …

2018年8月10日 · 与ADPKD致病相关的基因为pkd1和pkd2，其基因产物分别为膜蛋白PKD1和PKD2。二者的突变在所有病人中分别占到大约85%和10%的比例。人源pkd1基因定位于16号 …

PKD2 was first identified as the pathogenic protein for autosomal dominant polycystic kidney disease (ADPKD) and is widely recognized as an ion channel. Subsequent studies have …

2016年8月10日 · PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based …

2017年12月20日 · Protein kinase D2 (PKD2) is a serine/threonine kinase that belongs to the PKD family of calcium–calmodulin kinases, which comprises three isoforms: PKD1, PKD2, and …

2024年7月29日 · 常染色体显性遗传性多囊肾 (autosomal dominant polycystic kidney disease, ADPKD)是常见病，在活产儿中发病率约为1/1000-1/400 [1,2]。 该病通常没有临床症状，因此 …

Ubiquitous expression in endometrium (RPKM 27.5), kidney (RPKM 19.2) and 25 other tissues. 该基因编码多囊蛋白家族的一个成员。 编码的蛋白质是一种多通道膜蛋白，作为钙可渗透阳离 …