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Genetics Home Reference: your guide to understanding genetic conditions
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GALNT3

Reviewed August 2012

What is the official name of the GALNT3 gene?

The official name of this gene is “polypeptide N-acetylgalactosaminyltransferase 3.”

GALNT3 is the gene's official symbol. The GALNT3 gene is also known by other names, listed below.

What is the normal function of the GALNT3 gene?

The GALNT3 gene provides instructions for making a protein called ppGalNacT3, which is found in many types of cells. This protein plays a major role in regulating 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.

The ppGalNacT3 protein regulates the activity of a protein called fibroblast growth factor 23, which is produced in bone cells and whose function is to signal the body to decrease phosphate reabsorption by the kidneys. The ppGalNacT3 protein attaches sugar molecules to particular regions of fibroblast growth factor 23 through a process called glycosylation. These sugar molecules are required for the protein's transport out of cells and to protect the protein from being broken down. When phosphate levels are increased, ppGalNacT3 glycosylates fibroblast growth factor 23 so it will not be broken down. Signaling from fibroblast growth factor 23 leads to a decrease in phosphate reabsorption, which helps to maintain normal phosphate levels in the body.

How are changes in the GALNT3 gene related to health conditions?

hyperphosphatemic familial tumoral calcinosis - caused by mutations in the GALNT3 gene

At least 25 mutations in the GALNT3 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. GALNT3 gene mutations result in the production of ppGalNacT3 protein with little or no function. As a result, ppGalNacT3 cannot glycosylate fibroblast growth factor 23. Fibroblast growth factor 23 becomes trapped within the cell and is broken down rather than being released from cells (secreted) as usual. Without fibroblast growth factor 23, more phosphate 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 GALNT3 gene located?

Cytogenetic Location: 2q24-q31

Molecular Location on chromosome 2: base pairs 165,747,802 to 165,794,292

The GALNT3 gene is located on the long (q) arm of chromosome 2 between positions 24 and 31.

The GALNT3 gene is located on the long (q) arm of chromosome 2 between positions 24 and 31.

More precisely, the GALNT3 gene is located from base pair 165,747,802 to base pair 165,794,292 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GALNT3?

You and your healthcare professional may find the following resources about GALNT3 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 GALNT3 gene or gene products?

  • GalNAc-T3
  • GalNAc transferase 3
  • GALT3_HUMAN
  • polypeptide GalNAc transferase 3
  • polypeptide GalNAc-transferase T3
  • pp-GaNTase 3
  • protein-UDP acetylgalactosaminyltransferase 3
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3
  • UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GALNT3?

calcinosis ; calcium ; cell ; familial ; fibroblast ; gene ; glycosylation ; growth factor ; homeostasis ; mineral ; phosphate ; protein ; T3 ; transferase

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E. GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. Biochim Biophys Acta. 2009 Jan;1792(1):61-7. doi: 10.1016/j.bbadis.2008.09.016. Epub 2008 Oct 11. (http://www.ncbi.nlm.nih.gov/pubmed/18976705?dopt=Abstract)
  • Chefetz I, Sprecher E. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008. Epub 2008 Oct 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19013236?dopt=Abstract)
  • Farrow EG, Imel EA, White KE. Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho). Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22142751?dopt=Abstract)
  • Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. (http://www.ncbi.nlm.nih.gov/pubmed/20358599?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2591)
  • Sprecher E. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol. 2010 Mar;130(3):652-60. doi: 10.1038/jid.2009.337. Epub 2009 Oct 29. (http://www.ncbi.nlm.nih.gov/pubmed/19865099?dopt=Abstract)
  • OMIM: UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3 (http://omim.org/entry/601756)
  • Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, Kılıç E. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab. 2011 Sep;29(5):621-5. doi: 10.1007/s00774-011-0260-1. Epub 2011 Feb 25. (http://www.ncbi.nlm.nih.gov/pubmed/21347749?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2012
Published: December 16, 2014