蛋白名称
Fibroblast growth factor 23
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
WB 1:2000-1:10000; IF 1:200-1:1000; ELISA 1:5000-1:20000;
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
其他名称
FGF23 ; HYPF ; Fibroblast growth factor 23 ; FGF-23 ; Phosphatonin ; Tumor-derived hypophosphatemia-inducing factor
背景
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). [provided by RefSeq, Feb 2013],
功能
Disease:Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.,Disease:Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.,PTM:After secretion it is processed into a N-terminal fragment and a C-terminal fragment. The processing is effected by the proprotein convertases.,similarity:Belongs to the heparin-binding growth factors family.,
