FGF23

Name

fibroblast growth factor 23

Type

protein-coding

Position

4,368,227–4,379,712 (−)

Aliases

ADHR, FGFN, HFTC2, HPDR2, HYPF, PHPTC

Ensembl

ENSG00000118972

RefSeq RNA

NM_020638.3

RefSeq protein

NP_065689.1

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].