FGF 23 è un gene codificato dal simbolo FGF23. Altri nomi includono: Fibroblast growth factor 23; FGF-23; Phosphatonin; Tumor-derived hypophosphatemia-inducing factor; FGF23; HYPF. FGF 23 ha una massa di 27.95kDa, una lunghezza di amminoacidi di 251, ed è implicato nella malattia: Hypophosphatemic rickets, autosomal dominant; Tumoral calcinosis, hyperphosphatemic, familial, 2.
Offriamo 49 anticorpi contro FGF 23, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.
Sommario di Entrez
This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC).
Specificità del tessuto
Expressed in osteogenic cells particularly during phases of active bone remodeling. In adult trabecular bone, expressed in osteocytes and flattened bone-lining cells (inactive osteoblasts).
Coinvolgimento nella malattia
Hypophosphatemic rickets, autosomal dominant: A disease characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses.
Tumoral calcinosis, hyperphosphatemic, familial, 2: A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.
Somiglianze di sequenza
Belongs to the heparin-binding growth factors family.
Modifica post-translazionale
Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases.
Posizione cellulare
Secreted.
Secretion is dependent on O-glycosylation.
