Fibroblast growth factor 23

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Fibroblast growth factor 23

PDB rendering based on 2p39.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FGF23 ; ADHR; FGFN; HPDR2; HYPF; PHPTC
External IDs OMIM605380 MGI1891427 HomoloGene10771 GeneCards: FGF23 Gene
RNA expression pattern
PBB GE FGF23 221166 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8074 64654
Ensembl ENSG00000118972 ENSMUSG00000000182
UniProt Q9GZV9 Q9EPC2
RefSeq (mRNA) NM_020638 NM_022657
RefSeq (protein) NP_065689 NP_073148
Location (UCSC) Chr 12:
4.48 – 4.49 Mb
Chr 6:
127.07 – 127.08 Mb
PubMed search [1] [2]

Fibroblast growth factor 23 or FGF23 is a protein that in humans is encoded by the FGF23 gene.[1] FGF23 is a member of the fibroblast growth factor (FGF) family which is responsible for phosphate metabolism.[2]

Function[edit]

The main function of FGF23 seems to be regulation of phosphate concentration in plasma. FGF23 is secreted by Osteocytes in response to elevated Calcitriol. FGF23 acts on the kidneys, where it decreases the expression of NPT2, a sodium-phosphate cotransporter in the proximal tubule.[3] Thus, FGF23 decreases the reabsorption and increases excretion of phosphate.

Clinical significance[edit]

FGF23 is located on chromosome 12 and is composed of three exons. Mutations in FGF23 that render the protein resistant to proteolytic cleavage 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, such as the benign mesenchymal neoplasm Phosphaturic mesenchymal tumor causing tumor-induced osteomalacia, a paraneoplastic syndrome.[4] 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.[5] 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[edit]

  1. ^ Yamashita T, Yoshioka M, Itoh N (October 2000). "Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain". Biochem. Biophys. Res. Commun. 277 (2): 494–8. doi:10.1006/bbrc.2000.3696. PMID 11032749. 
  2. ^ Fukumoto S (2008). "Physiological regulation and disorders of phosphate metabolism--pivotal role of fibroblast growth factor 23". Intern. Med. 47 (5): 337–43. doi:10.2169/internalmedicine.47.0730. PMID 18310961. 
  3. ^ http://www.nature.com/ki/journal/v79/n121s/pdf/ki201127a.pdf
  4. ^ Zadik Y, Nitzan DW (October 2011). "Tumor induced osteomalacia: A forgotten paraneoplastic syndrome?". Oral Oncol 48 (2): e9–10. doi:10.1016/j.oraloncology.2011.09.011. PMID 21985764. 
  5. ^ "Entrez Gene: FGF23 fibroblast growth factor 23". 

Further reading[edit]


This article incorporates text from the United States National Library of Medicine, which is in the public domain.