包装D1
多囊肾病
基因
生物
基因产物
氨基酸
无义突变
位置克隆
遗传学
常染色体显性多囊肾病
肽序列
跨膜蛋白
跨膜结构域
分子生物学
突变
生物化学
基因表达
肾
错义突变
受体
突变体
作者
Toshio Mochizuki,Guanqing Wu,Tomohito Hayashi,Stavroulla Xenophontos,Barbera Veldhuisen,Jasper J. Saris,David M. Reynolds,Yiqiang Cai,Patricia A. Gabow,Alkis Pierides,William J. Kimberling,Martijn H. Breuning,Constantinos Deltas,Dorien J.M. Peters,Stefan Somlo
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:1996-05-31
卷期号:272 (5266): 1339-1342
被引量:1316
标识
DOI:10.1126/science.272.5266.1339
摘要
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.
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