PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

被引：1145

作者：

Mochizuki, T

Wu, GQ

Hayashi, T

Xenophontos, SL

Veldhuisen, B

Saris, JJ

Reynolds, DM

Cai, YQ

Gabow, PA

Pierides, A

Kimberling, WJ

Breuning, MH

Deltas, CC

Peters, DJM

Somlo, S

机构：

[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED, DEPT MED & MOLEC GENET, DIV RENAL, BRONX, NY 10461 USA

[2] CYPRUS INST NEUROL & GENET, AGIOS DHOMENTIOS 2012, NICOSIA, CYPRUS

[3] LEIDEN UNIV, DEPT HUMAN GENET, SYLVIUS LABS, 2333 AL LEIDEN, NETHERLANDS

[4] UNIV COLORADO, HLTH SCI CTR, DEPT INTERNAL MED, DENVER, CO 80220 USA

[5] NICOSIA GEN HOSP, DEPT NEPHROL, NICOSIA 1311, CYPRUS

[6] BOYS TOWN NATL RES HOSP, DEPT PATHOL, OMAHA, NE 68131 USA

[7] BOYS TOWN NATL RES HOSP, DEPT OTOLARYNGOL, OMAHA, NE 68131 USA

来源：

SCIENCE | 1996年 / 272卷 / 5266期

关键词：

D O I：

10.1126/science.272.5266.1339

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

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.

引用

页码：1339 / 1342

页数：4

共 54 条

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