fibroblast growth factor 23
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The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells. This protein helps regulate phosphate levels within the body. Among its many functions, phosphate plays a critical role in the formation and growth of bones during childhood and helps maintain bone strength in adults.
Normal function
The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells. This protein helps regulate phosphate levels within the body. Among its many functions, phosphate plays a critical role in the formation and growth of bones during childhood and helps maintain bone strength in adults.
Fibroblast growth factor 23 works in the kidneys to keep the body's phosphate levels in balance. The kidneys normally release excess phosphate in the urine, and they reabsorb this mineral into the bloodstream when more is needed. Fibroblast growth factor 23 acts as a signal that tells the kidneys to stop reabsorbing phosphate into the bloodstream.
In order for fibroblast growth factor 23 to function, sugar molecules must attach to the protein through a process called glycosylation. This allows fibroblast growth factor 23 to move out of the bone cell and protects it from being broken down. Once outside the cell, fibroblast growth factor 23 must bind to a receptor protein that spans the membrane of kidney cells. Binding to this receptor triggers a signaling pathway that stops phosphate reabsorption by the kidneys. When more phosphate is needed, fibroblast growth factor 23 is cut (cleaved) at a certain site, which turns off (inactivates) the protein. This helps regulate the amount of active fibroblast growth factor 23 that is circulating in the bloodstream.
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Ulteriori letture e riferimenti
- fibroblast growth factor 23; MedlinePlus, National Library of Medicine.
- ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8. doi: 10.1038/81664.
- Bergwitz C, Juppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med. 2010;61:91-104. doi: 10.1146/annurev.med.051308.111339.
- Courbebaisse M, Lanske B. Biology of Fibroblast Growth Factor 23: From Physiology to Pathology. Cold Spring Harb Perspect Med. 2018 May 1;8(5):a031260. doi: 10.1101/cshperspect.a031260.
- Farrow EG, Imel EA, White KE. Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho). Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020.
- Fukumoto S. Physiological regulation and disorders of phosphate metabolism--pivotal role of fibroblast growth factor 23. Intern Med. 2008;47(5):337-43. doi: 10.2169/internalmedicine.47.0730. Epub 2008 Mar 3.
- Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, Farrow EG, Yu X, Arking DE, Dietz HC, White KE. Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. Am J Physiol Endocrinol Metab. 2008 Oct;295(4):E929-37. doi: 10.1152/ajpendo.90456.2008. Epub 2008 Aug 5.
- Imel EA, Econs MJ. Fibroblast growth factor 23: roles in health and disease. J Am Soc Nephrol. 2005 Sep;16(9):2565-75. doi: 10.1681/ASN.2005050573. Epub 2005 Jul 20. No abstract available.
- Quarles LD. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab. 2003 Jul;285(1):E1-9. doi: 10.1152/ajpendo.00016.2003.
- Ramon I, Kleynen P, Body JJ, Karmali R. Fibroblast growth factor 23 and its role in phosphate homeostasis. Eur J Endocrinol. 2010 Jan;162(1):1-10. doi: 10.1530/EJE-09-0597. Epub 2009 Sep 23.
- Razzaque MS. The FGF23-Klotho axis: endocrine regulation of phosphate homeostasis. Nat Rev Endocrinol. 2009 Nov;5(11):611-9. doi: 10.1038/nrendo.2009.196.
- Saito T, Fukumoto S. Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. Int J Pediatr Endocrinol. 2009;2009:496514. doi: 10.1155/2009/496514. Epub 2009 Oct 7.
- Sprecher E. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol. 2010 Mar;130(3):652-60. doi: 10.1038/jid.2009.337. Epub 2009 Oct 29.
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