Fibroblast growth factor 23
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Fibroblast growth factor 23 or FGF23 is gene which is a member of the fibroblast growth factor family and encodes a protein which is responsible for phosphate metabolism. FGF23 is located on chromosome 12 and is composed of three exons. Mutations in FGF23 which cause failure of proper gene splicing leads to increased activity of FGF23 and the renal phosphate loss found in the human disease autosomal dominant hypophosphatemic rickets. FGF23 is also overproduced by some types of tumors, causing tumor-produced osteomalacia. Loss of FGF23 activity is thought to lead to increased phosphate levels and the clinical syndrome of familial tumor calcinosis. Prior to discovery in 2000, it was hypothesized that a protein existed which performed the function of FGF23. This putative protein was known as phosphatonin.
