Entrez gene ID | | 8074 |
Official gene symbol | | FGF23 |
Full name | | fibroblast growth factor 23 |
Aliases | | ,ADHR,HPDR2,HYPF,PHPTC, |
Gene summary | | The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The product of this gene inhibits renal tubular phosphate transport. This gene was identified by its mutations associated with autosomal dominant hypophosphatemic rickets (ADHR), an inherited phosphate wasting disorder. Abnormally high level expression of this gene was found in oncogenic hypophosphatemic osteomalacia (OHO), a phenotypically similar disease caused by abnormal phosphate metabolism. Mutations in this gene have also been shown to cause familial tumoral calcinosis with hyperphosphatemia. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12p13.3 |
Gene position | | 4488894 - 4477393 Map Viewer |
Gene orientation | | minus |
Gene size | | 11502 bp |
Gene sequence |
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OMIM ID | | 605380 |
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