Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene. [5] [6] Mutations of PKD1 are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction. [7]

2024年12月25日 · PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1 include Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease.

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]

2002年1月10日 · Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms.

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号染色体，编码了长度为4302个氨基酸包含11次跨膜螺旋的蛋白PKD1。由于PKD1分子量十分巨大，研究人员对其研究一直 ...

PKD1 基因是成人多囊肾病 I 型(Polycystic kidney disease,adult type I)的致病基因，为常染色体显性遗传方式（AD)。 对于该类遗传方式，杂合变异可能导致发病。 在受检者其父母 PKD1 基因均未发现上述变异，该变异为新生变异（De Novo），此变异有可能为致病性变异。

大多数成人型pkd患者的异常基因位于16号染色体的短臂，称为pkd1基因。 少数成人PKD患者患者的异常基因位于4号染色体的短臂，称为PKD2基因。 值得一提的是PKD1和PKD2基因编码产物目前都不清楚。

The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys. Although its exact function is not well understood, polycystin-1 appears to interact with a smaller, somewhat similar protein called polycystin-2.

2024年10月22日 · 常染色体隐性遗传多囊肾病（adpkd）主要由pkd1和pkd2的突变引起，分别约占85%和15%。此外，最近在非典型adpkd中识别出几个新的致病基因，如dnajb11和ganab。

2025年2月8日 · 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]