FGF23 Human Recombinant Protein

FGF23: Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL. Acts directly on the parathyroid to decrease PTH secretion. Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization. Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR). ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses. Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC). HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Belongs to the heparin-binding growth factors family.

Protein type: Secreted; Cytokine; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12p13.3

Cellular Component: extracellular space; extracellular region

Molecular Function: growth factor activity; type 1 fibroblast growth factor receptor binding

Biological Process: epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; phosphoinositide-mediated signaling; nerve growth factor receptor signaling pathway; negative regulation of hormone secretion; positive regulation of transcription, DNA-dependent; phosphate metabolic process; negative regulation of bone mineralization; cellular phosphate ion homeostasis; insulin receptor signaling pathway; innate immune response; negative regulation of osteoblast differentiation; phosphate ion homeostasis; cell differentiation; vitamin D catabolic process

Disease: Hypophosphatemic Rickets, Autosomal Dominant