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FGF23 is 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).
Gene Name: | fibroblast growth factor 23 |
Family/Subfamily: | HBGF , not assigned-HBGF |
Synonyms: | FGF23, ADHR, Fibroblast growth factor 23, FGF-23, HYPF, Phosphatonin, PHPTC, HPDR2 |
Target Sequences: | NM_020638 NP_065689.1 Q9GZV9 |
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