Gene Symbol | FGF23 |
Entrez Gene ID | 8074 |
Full Name | fibroblast growth factor 23 |
Synonyms | ADHR,FGFN,HPDR2,HYPF,PHPTC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hypophosphatemic rickets, autosomal dominant, 193100 (3); Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) |