Full Name
Fibroblast growth factor 23
Background
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).
Alternative Names
ADHR; FGFN; HYPF; HFTC2; HPDR2; PHPTC
Cellular Localization
Extracellular region or secreted
Involvement in Disease
Diseases associated with FGF23 include Hypophosphatemic Rickets, Autosomal Dominant and Tumoral Calcinosis, Hyperphosphatemic, Familial, 2.
Related Pathways
Its related pathways are RET signaling and Signaling by FGFR2 in disease.
Function
Regulator of phosphate homeostasis. Inhibit renal tubular phosphate transport by reducing the level of SLC34A1. Up-regulate the expression of EGR1 in the presence of KL (via similarity). Acts directly on the parathyroid glands, reducing parathyroid secretion (similar). Vitamin d metabolism regulator. Negatively regulate osteoblast differentiation and matrix mineralization.
Field of research
Cancer antibody; Controls and Markers antibody; Developmental Biology antibody; Signaling Transduction antibody
Post-translational modifications
1.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. 2.O-glycosylated by GALT3. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23.
Biologic Classification
Protein Based Therapies
Monoclonal antibody (mAb)
Description
Burosumab (KRN23) is a fully human monoclonal IgG1 antibody that specifically binds fibroblast growth factor 23 (FGF23). The U.S. Food and Drug Administration approved Burosumab for the treatment of X-linked hypophosphatemia (XLH) in 2018. It is a rare inherited disease that affects approximately 3,000 children and 12,000 adults in the United States. Burosumab is a breakthrough therapy classified as an orphan drug.
Indication
X-linked hypophosphataemia
Synonyms
KRN23
Burosumab (genetical recombination)
burosumab-twza
