Fibroblast growth factor 23 or FGF23 is gene which is a member of the fibroblast growth factor (FGF) family and encodes a protein which is responsible for phosphate metabolism.
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.
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.
This gene was identified by its mutations associated with autosomal dominant hypophosphatemic rickets.[cite web | title = Entrez Gene: FGF23 fibroblast growth factor 23| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8074| accessdate = ] 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.]References
Further reading
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*cite journal | author=Silve C, Beck L |title=Is FGF23 the long sought after phosphaturic factor phosphatonin? |journal=Nephrol. Dial. Transplant. |volume=17 |issue= 6 |pages= 958–61 |year= 2003 |pmid= 12032180 |doi=
*cite journal | author=Quarles LD |title=FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. |journal=Am. J. Physiol. Endocrinol. Metab. |volume=285 |issue= 1 |pages= E1–9 |year= 2003 |pmid= 12791601 |doi= 10.1152/ajpendo.00016.2003
*cite journal | author=Fukagawa M, Nii-Kono T, Kazama JJ |title=Role of fibroblast growth factor 23 in health and in chronic kidney disease. |journal=Curr. Opin. Nephrol. Hypertens. |volume=14 |issue= 4 |pages= 325–9 |year= 2005 |pmid= 15930999 |doi=
*cite journal | author=Imel EA, Econs MJ |title=Fibroblast growth factor 23: roles in health and disease. |journal=J. Am. Soc. Nephrol. |volume=16 |issue= 9 |pages= 2565–75 |year= 2006 |pmid= 16033853 |doi= 10.1681/ASN.2005050573
*cite journal | author=Liu S, Quarles LD |title=How fibroblast growth factor 23 works. |journal=J. Am. Soc. Nephrol. |volume=18 |issue= 6 |pages= 1637–47 |year= 2007 |pmid= 17494882 |doi= 10.1681/ASN.2007010068
*cite journal | author=Yamashita T, Yoshioka M, Itoh N |title=Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain. |journal=Biochem. Biophys. Res. Commun. |volume=277 |issue= 2 |pages= 494–8 |year= 2000 |pmid= 11032749 |doi= 10.1006/bbrc.2000.3696
*cite journal | author= |title=Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. |journal=Nat. Genet. |volume=26 |issue= 3 |pages= 345–8 |year= 2000 |pmid= 11062477 |doi= 10.1038/81664
*cite journal | author=White KE, Jonsson KB, Carn G, "et al." |title=The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue= 2 |pages= 497–500 |year= 2001 |pmid= 11157998 |doi=
*cite journal | author=Shimada T, Mizutani S, Muto T, "et al." |title=Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 11 |pages= 6500–5 |year= 2001 |pmid= 11344269 |doi= 10.1073/pnas.101545198
*cite journal | author=Bowe AE, Finnegan R, Jan de Beur SM, "et al." |title=FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. |journal=Biochem. Biophys. Res. Commun. |volume=284 |issue= 4 |pages= 977–81 |year= 2001 |pmid= 11409890 |doi= 10.1006/bbrc.2001.5084
*cite journal | author=White KE, Carn G, Lorenz-Depiereux B, "et al." |title=Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. |journal=Kidney Int. |volume=60 |issue= 6 |pages= 2079–86 |year= 2002 |pmid= 11737582 |doi= 10.1046/j.1523-1755.2001.00064.x
*cite journal | author=Kruse K, Woelfel D, Strom TM, Storm TM |title=Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. |journal=Horm. Res. |volume=55 |issue= 6 |pages= 305–8 |year= 2002 |pmid= 11805436 |doi=
*cite journal | author=Yamashita T, Konishi M, Miyake A, "et al." |title=Fibroblast growth factor (FGF)-23 inhibits renal phosphate reabsorption by activation of the mitogen-activated protein kinase pathway. |journal=J. Biol. Chem. |volume=277 |issue= 31 |pages= 28265–70 |year= 2002 |pmid= 12032146 |doi= 10.1074/jbc.M202527200
*cite journal | author=Saito H, Kusano K, Kinosaki M, "et al." |title=Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production. |journal=J. Biol. Chem. |volume=278 |issue= 4 |pages= 2206–11 |year= 2003 |pmid= 12419819 |doi= 10.1074/jbc.M207872200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Bai XY, Miao D, Goltzman D, Karaplis AC |title=The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. |journal=J. Biol. Chem. |volume=278 |issue= 11 |pages= 9843–9 |year= 2003 |pmid= 12519781 |doi= 10.1074/jbc.M210490200
*cite journal | author=Larsson T, Zahradnik R, Lavigne J, "et al." |title=Immunohistochemical detection of FGF-23 protein in tumors that cause oncogenic osteomalacia. |journal=Eur. J. Endocrinol. |volume=148 |issue= 2 |pages= 269–76 |year= 2003 |pmid= 12590648 |doi=
*cite journal | author=Campos M, Couture C, Hirata IY, "et al." |title=Human recombinant endopeptidase PHEX has a strict S1' specificity for acidic residues and cleaves peptides derived from fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein. |journal=Biochem. J. |volume=373 |issue= Pt 1 |pages= 271–9 |year= 2003 |pmid= 12678920 |doi= 10.1042/BJ20030287
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