Ontology highlight
ABSTRACT:
SUBMITTER: Lorenz-Depiereux B
PROVIDER: S-EPMC2820166 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
American journal of human genetics 20100204 2
The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal regulation of phosphate homeostasis; for example, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D synthesis. Here, we report presumable loss-of-function mutations in the ENPP1 gene (ectonucleotide pyrophosphatase/phosphodiesterase) in members of four families affected with hypophosphatemi ...[more]