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Genetics Home Reference: your guide to understanding genetic conditions
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AGXT

Reviewed December 2015

What is the official name of the AGXT gene?

The official name of this gene is “alanine-glyoxylate aminotransferase.”

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

What is the normal function of the AGXT gene?

The AGXT gene provides instructions for making an enzyme called alanine-glyoxylate aminotransferase. This enzyme is found in liver cells, specifically within cell structures called peroxisomes. These structures are important for several cellular activities, such as ridding the cell of toxic substances and helping to break down certain fats. In the peroxisome, alanine-glyoxylate aminotransferase converts a compound called glyoxylate to the protein building block (amino acid) glycine.

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

primary hyperoxaluria - caused by mutations in the AGXT gene

More than 175 mutations in the AGXT gene have been found to cause primary hyperoxaluria type 1. This condition is caused by the overproduction of a substance called oxalate. Excess amounts of this substance lead to kidney and bladder stones, which can begin anytime from childhood to early adulthood with kidney disease developing at any age. Deposition of oxalate in multiple other tissues throughout the body (systemic oxalosis) can cause additional health problems.

Most of the AGXT gene mutations decrease or eliminate alanine-glyoxylate aminotransferase activity, which impairs the conversion of glyoxylate to glycine. Other mutations cause the enzyme to be misplaced in cells, transporting it to structures called mitochondria instead of to peroxisomes. While the enzyme in the mitochondria retains activity, it cannot access glyoxylate, which is in peroxisomes. All AGXT gene mutations result in the accumulation of glyoxylate, which is converted to oxalate instead of glycine. The oxalate is filtered through the kidneys and is either excreted in urine as a waste product or combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Increased oxalate levels in the blood can lead to systemic oxalosis, particularly affecting bones and the walls of blood vessels in people with primary hyperoxaluria type 1.

Where is the AGXT gene located?

Cytogenetic Location: 2q37.3

Molecular Location on chromosome 2: base pairs 240,868,745 to 240,879,119

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/189))

The AGXT gene is located on the long (q) arm of chromosome 2 at position 37.3.

The AGXT gene is located on the long (q) arm of chromosome 2 at position 37.3.

More precisely, the AGXT gene is located from base pair 240,868,745 to base pair 240,879,119 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 AGXT?

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

  • AGT
  • AGT1
  • AGXT1
  • alanine glyoxylate aminotransferase
  • alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
  • alanine-glyoxylate transaminase
  • L-alanine: glyoxylate aminotransferase 1
  • pyruvate (glyoxylate) aminotransferase
  • serine-pyruvate aminotransferase
  • serine:pyruvate aminotransferase
  • SPAT
  • SPT

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 AGXT?

alanine ; amino acid ; calcium ; cell ; compound ; enzyme ; gene ; glycine ; kidney ; L-alanine ; mitochondria ; peroxisomes ; protein ; serine ; toxic

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

References

  • Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Aug 15;369(7):649-58. doi: 10.1056/NEJMra1301564. Review. Erratum in: N Engl J Med. 2013 Nov 28;369(22):2168. (http://www.ncbi.nlm.nih.gov/pubmed/23944302?dopt=Abstract)
  • Gene Review: Primary Hyperoxaluria Type 1 (http://www.ncbi.nlm.nih.gov/books/NBK1283)
  • Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium. Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. J Am Soc Nephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698. Epub 2015 Feb 2. (http://www.ncbi.nlm.nih.gov/pubmed/25644115?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/189)
  • Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19479957?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: December 2015
Published: February 8, 2016