| Entrez Gene ID | 8074 |
|---|---|
| Official Gene Symbol | FGF23 (GeneCards) |
| Full name | fibroblast growth factor 23 |
| Location | 12p13.32 |
| Other ids | Vega : OTTHUMG00000168241 MIM : 605380 HGNC : HGNC:3680 Ensembl : ENSG00000118972 |
| Other names | ADHR, FGFN, HYPF, HFTC2, HPDR2, PHPTC |
| Summary | 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] |