FGF23
Chr 12fibroblast growth factor 23
Also known as: ADHR, FGFN, HFTC2, HPDR2, HYPF, PHPTC
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]
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FGF23 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Evaluating the Role of IGF-1 and S-Klotho In Plaque Phenotype and Vulnerability: the VISION Study.
ACTIVE NOT RECRUITINGPhysical Exercise and Biomolecular Analysis to Reduce Uremic Toxins in Chronic Kidney Disease: An Exploratory Study
ENROLLING BY INVITATIONPhosphorus-31 Spectroscopy in Phosphate Diabetes
RECRUITINGEffect of Intravenous Iron on Quality of Life in Older Patients With Acute Coronary Syndrome
RECRUITINGDifferent Limb Lengths in Gastric Bypass Surgery (SLIM) - Part 3: Metabolism and Inflammation
ACTIVE NOT RECRUITINGAcute Reno-Cardiac Action of Dapagliflozin In Advanced Heart Failure Patients on Heart Transplant Waiting List
RECRUITINGKlotho Gene, Red Complex Bacteria and Periodontal Viruses in Patients With and Without Periodontitis and Acute Coronary Syndrome
NOT YET RECRUITINGA Study of Lirafugratinib in Non-CCA Solid Tumors With FGFR2 Fusion or Rearrangement
RECRUITINGSafety and Efficacy of Injectable Klotho Plasmid Gene Therapy in Humans
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools