PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
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DOI：
10.1126/science.272.5266.1339
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发表时间：
1996-05-31
期刊：
影响因子：
56.9
通讯作者：
Somlo, S
中科院分区：
文献类型：
--
作者：
Mochizuki, T;Wu, GQ;Somlo, S
常染色体显性多囊肾病的第二个基因被定位克隆。无义突变在这个基因（PKD2）分离与疾病的PKD2三个家庭。PKD2基因产物的预测的968个氨基酸序列具有六个跨膜跨度，具有细胞内氨基和羧基末端。PKD2蛋白与PKD1、PKD1的秀丽隐杆线虫同源物和电压激活钙（和钠）通道家族具有氨基酸相似性，并且它包含潜在的钙结合结构域。
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.