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FGF23

FGF23

Reviewed August 2012

What is the official name of the FGF23 gene?

The official name of this gene is “fibroblast growth factor 23.”

FGF23 is the gene's official symbol. The FGF23 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the FGF23 gene?

The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells. This protein is necessary in regulating the phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally rid the body of excess phosphate by excreting it in urine, and they reabsorb this mineral into the bloodstream when more is needed. Fibroblast growth factor 23 signals the kidneys to stop reabsorbing phosphate into the bloodstream.

In order to function, fibroblast growth factor 23 must be released (secreted) from the cell and it must attach (bind) to a receptor protein. To be secreted from the cell, sugar molecules are attached to fibroblast growth factor 23 by another protein called ppGalNacT3 in a process called glycosylation. Glycosylation allows fibroblast growth factor 23 to move out of the cell and protects the protein from being broken down. Once outside the bone cell, the protein must bind to a receptor protein called FGF receptor 1 that spans the membrane of kidney cells. Binding of fibroblast growth factor 23 to its receptor stimulates signaling that stops phosphate reabsorption into the bloodstream.

Studies suggest that fibroblast growth factor 23 has additional functions. It helps determine how much phosphate from the diet is absorbed by the intestines and plays a role in regulating vitamin D.

Fibroblast growth factor 23 is normally cut (cleaved) at a certain site, which turns off (inactivates) the protein. The cleavage site is located at positions 179 to 180 in the string of building blocks (amino acids) that make up the protein. This cleavage helps regulate the amount of active fibroblast growth factor 23 circulating in the bloodstream.

How are changes in the FGF23 gene related to health conditions?

hereditary hypophosphatemic rickets - caused by mutations in the FGF23 gene

At least three mutations in the FGF23 gene have been found to cause a rare form of hereditary hypophosphatemic rickets known as autosomal dominant hypophosphatemic rickets. These mutations change single protein building blocks (amino acids) in fibroblast growth factor 23, which prevents the protein from being cleaved. As a result, the protein is not inactivated, and an increased amount of the full-length, active protein circulates in the bloodstream. Overactivity of fibroblast growth factor 23 reduces phosphate reabsorption by the kidneys, leading to low levels of phosphate in the blood (hypophosphatemia) and related problems with bone growth in people with autosomal dominant hypophosphatemic rickets.

hyperphosphatemic familial tumoral calcinosis - caused by mutations in the FGF23 gene

At least seven mutations in the FGF23 gene have been found to cause hyperphosphatemic familial tumoral calcinosis (HFTC), a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Mutations in the FGF23 gene lead to the production of a protein with decreased function. This nonfunctional protein is quickly broken down in cells, leading to a shortage of available fibroblast growth factor 23. This protein shortage decreases signaling and increases the amount of phosphate that is reabsorbed back into the bloodstream by the kidneys, leading to hyperphosphatemia. Calcinosis results when the excess phosphate combines with calcium to form deposits that build up in soft tissues.

Where is the FGF23 gene located?

Cytogenetic Location: 12p13.3

Molecular Location on chromosome 12: base pairs 4,368,226 to 4,379,727

The FGF23 gene is located on the short (p) arm of chromosome 12 at position 13.3.

The FGF23 gene is located on the short (p) arm of chromosome 12 at position 13.3.

More precisely, the FGF23 gene is located from base pair 4,368,226 to base pair 4,379,727 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about FGF23?

You and your healthcare professional may find the following resources about FGF23 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FGF23 gene or gene products?

  • ADHR
  • FGF-23
  • FGF23_HUMAN
  • HPDR2
  • HYPF
  • phosphatonin
  • PHPTC
  • tumor-derived hypophosphatemia-inducing factor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding FGF23?

acids ; autosomal ; autosomal dominant ; calcinosis ; calcium ; cell ; familial ; fibroblast ; gene ; glycosylation ; growth factor ; homeostasis ; kidney ; mineral ; phosphate ; protein ; proximal ; receptor ; renal ; rickets ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: August 2012
Published: April 21, 2014