Ontology highlight
ABSTRACT:
SUBMITTER: Schumann F
PROVIDER: S-EPMC2782030 | biostudies-literature | 2009 Sep
REPOSITORIES: biostudies-literature
Schumann Frank F Hoffmeister Helen H Bader Reto R Schmidt Maren M Witzgall Ralph R Kalbitzer Hans Robert HR
The Journal of biological chemistry 20090622 36
The PKD1 and PKD2 genes are the genes that are mutated in patients suffering from autosomal dominant polycystic kidney disease. The human PKD2 gene codes for a 968-amino acid long membrane protein called polycystin-2 that represents a cation channel whose activity can be regulated by Ca(2+) ions. By CD, fluorescence, and NMR spectroscopy, we have studied a 117-amino acid-long fragment of the cytoplasmic domain of polycystin-2, polycystin-2-(680-796) that was proposed to contain a Ca(2+)-binding ...[more]