FGF-23 Rabbit Polyclonal Antibody

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], 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.