Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1996 May 31;272(5266):1339-42.
doi: 10.1126/science.272.5266.1339.

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

T Mochizuki  1 , G Wu, T Hayashi, S L Xenophontos, B Veldhuisen, J J Saris, D M Reynolds, Y Cai, P A Gabow, A Pierides, W J Kimberling, M H Breuning, C C Deltas, D J Peters, S Somlo
Affiliations

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

T Mochizuki et al. Science. .

Abstract

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.

PubMed Disclaimer

Publication types

MeSH terms

Associated data