Aliases for FGF23 Gene
External Ids for FGF23 Gene
Previous GeneCards Identifiers for FGF23 Gene
This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]
GeneCards Summary for FGF23 Gene
FGF23 (Fibroblast Growth Factor 23) is a Protein Coding gene. Diseases associated with FGF23 include Hypophosphatemic Rickets, Autosomal Dominant and Tumoral Calcinosis, Hyperphosphatemic, Familial, 2. Among its related pathways are Signaling by activated point mutants of FGFR3 and PI3K/AKT activation. Gene Ontology (GO) annotations related to this gene include growth factor activity and type 1 fibroblast growth factor receptor binding. An important paralog of this gene is FGF3.
UniProtKB/Swiss-Prot Summary for FGF23 Gene
Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.