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Genetics Home Reference: your guide to understanding genetic conditions
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AGT

Reviewed May 2013

What is the official name of the AGT gene?

The official name of this gene is “angiotensinogen (serpin peptidase inhibitor, clade A, member 8).”

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

What is the normal function of the AGT gene?

The AGT gene provides instructions for making a protein called angiotensinogen. This protein is part of the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body. In the first step of this process, angiotensinogen is converted to angiotensin I. Through an additional step, angiotensin I is converted to angiotensin II. Angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This molecule also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure during fetal growth, which delivers oxygen to the developing tissues, is required for normal development of the kidneys, particularly of structures called the proximal tubules, and other tissues. In addition, angiotensin II may play a more direct role in kidney development, perhaps by affecting growth factors involved in the development of kidney structures.

Does the AGT gene share characteristics with other genes?

The AGT gene belongs to a family of genes called endogenous ligands (endogenous ligands). It also belongs to a family of genes called SERPIN (serine (or cysteine) peptidase inhibitors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

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

renal tubular dysgenesis - caused by mutations in the AGT gene

At least six mutations in the AGT gene have been found to cause a severe kidney disorder called renal tubular dysgenesis. This condition is characterized by abnormal kidney development before birth, the inability to produce urine (anuria), and severe low blood pressure (hypotension). These problems result in a reduction of amniotic fluid (oligohydramnios), which leads to a set of birth defects known as the Potter sequence.

Renal tubular dysgenesis can be caused by mutations in both copies of any of the genes involved in the renin-angiotensin system. Most of the mutations in the AGT gene that cause this disorder change single protein building blocks (amino acids) in the angiotensinogen protein. These changes occur in a region of the protein that is necessary for its conversion to angiotensin I. It is thought that the altered angiotensinogen cannot be converted, leading to a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the body does not get enough oxygen during fetal development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis.

other disorders - associated with the AGT gene

Variations in the AGT gene are associated with susceptibility to a form of high blood pressure (hypertension) called essential hypertension. Essential hypertension is a complex disorder associated with many genetic and environmental factors. The AGT gene variations associated with this condition affect single DNA building blocks (nucleotides) and likely lead to higher levels of the angiotensinogen protein.

Where is the AGT gene located?

Cytogenetic Location: 1q42.2

Molecular Location on chromosome 1: base pairs 230,702,522 to 230,714,589

The AGT gene is located on the long (q) arm of chromosome 1 at position 42.2.

The AGT gene is located on the long (q) arm of chromosome 1 at position 42.2.

More precisely, the AGT gene is located from base pair 230,702,522 to base pair 230,714,589 on chromosome 1.

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 AGT?

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

  • angiotensinogen
  • angiotensinogen preproprotein
  • ANGT_HUMAN
  • ANHU
  • pre-angiotensinogen
  • SERPINA8
  • serpin A8

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 AGT?

acids ; aldosterone ; DNA ; dysgenesis ; gene ; hormone ; hypertension ; hypotension ; kidney ; molecule ; oxygen ; protein ; proximal ; renal ; susceptibility

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

References

  • OMIM: ANGIOTENSINOGEN (http://omim.org/entry/106150)
  • Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005 Sep;37(9):964-8. Epub 2005 Aug 14. (http://www.ncbi.nlm.nih.gov/pubmed/16116425?dopt=Abstract)
  • Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22095942?dopt=Abstract)
  • Gubler MC, Antignac C. Renin-angiotensin system in kidney development: renal tubular dysgenesis. Kidney Int. 2010 Mar;77(5):400-6. doi: 10.1038/ki.2009.423. Epub 2009 Nov 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19924102?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/183)
  • Watkins WS, Hunt SC, Williams GH, Tolpinrud W, Jeunemaitre X, Lalouel JM, Jorde LB. Genotype-phenotype analysis of angiotensinogen polymorphisms and essential hypertension: the importance of haplotypes. J Hypertens. 2010 Jan;28(1):65-75. doi: 10.1097/HJH.0b013e328332031a. (http://www.ncbi.nlm.nih.gov/pubmed/19770777?dopt=Abstract)
  • Wolf G. Angiotensin II and tubular development. Nephrol Dial Transplant. 2002;17 Suppl 9:48-51. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12386287?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: May 2013
Published: October 20, 2014