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URL of this page: https://medlineplus.gov/genetics/gene/adar/

ADAR gene

adenosine deaminase RNA specific

Normal Function

The ADAR gene provides instructions for making a protein called RNA-specific adenosine deaminase 1 (ADAR1). This protein is involved in making changes to (editing) RNA, a chemical cousin of DNA. Specifically, it attaches (binds) to RNA and changes an RNA building block (nucleotide) called adenosine to another nucleotide called inosine.

The ADAR1 protein is involved in the control of the innate immune response, which is the immune system's early response to foreign invaders (pathogens). The immune system sometimes fails to recognize the body’s own RNA and may act as though it belongs to a pathogen that should be attacked. By changing adenosine to inosine, ADAR1 may prevent the immune system from targeting the body's own tissues.

The ADAR1 protein is also thought to inhibit the replication and spread of certain viruses, such as human immunodeficiency virus (HIV) and hepatitis C, by modifying their RNA. In addition, the ADAR1 protein controls the function of certain chemical messengers called neurotransmitters at particular sites in the body by modifying the RNA blueprint for the receptor proteins that interact with the neurotransmitters. Studies suggest that the ADAR1 protein may have other functions that are not well understood.

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

Variants (also called mutations) in the ADAR gene have been identified in people with Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and other health problems. Some of these variants lead to the production of an ADAR1 protein that is less able to bind to RNA; others impair the protein's RNA editing function. As a result, control of the immune response is impaired and the immune system attacks the body's own tissues and organs, leading to the signs and symptoms of Aicardi-Goutières syndrome.

More About This Health Condition

Other disorders

ADAR gene variants have been identified in people with dyschromatosis symmetrica hereditaria. This disorder is characterized by freckle-like spots (macules) on the face, hands, and feet that are darker or lighter than the surrounding skin. These macules generally appear in infancy or early childhood.

Variants in the ADAR gene that lead to dyschromatosis symmetrica hereditaria cause cells to produce a version of the ADAR1 protein that does not function properly. While the function of this protein in the skin is unknown, researchers suggest that incorrect RNA editing may result in pigment-producing cells (melanocytes) that are more or less active than normal, causing the skin spots that occur in people with this disorder.

Other Names for This Gene

  • ADAR1
  • adenosine deaminase acting on RNA 1-A
  • DRADA
  • DSH
  • DSRAD
  • dsRNA adenosine deaminase
  • dsRNA adeonosine deaminase
  • IFI-4
  • IFI4
  • interferon-induced protein 4
  • interferon-inducible protein 4

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Crow YJ. Aicardi-Goutieres Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1475/ Citation on PubMed
  • Fisher AJ, Beal PA. Effects of Aicardi-Goutieres syndrome mutations predicted from ADAR-RNA structures. RNA Biol. 2017 Feb;14(2):164-170. doi: 10.1080/15476286.2016.1267097. Epub 2016 Dec 12. Citation on PubMed or Free article on PubMed Central
  • Hayashi M, Suzuki T. Dyschromatosis symmetrica hereditaria. J Dermatol. 2013 May;40(5):336-43. doi: 10.1111/j.1346-8138.2012.01661.x. Epub 2012 Sep 14. Citation on PubMed
  • Heraud-Farlow JE, Walkley CR. The role of RNA editing by ADAR1 in prevention of innate immune sensing of self-RNA. J Mol Med (Berl). 2016 Oct;94(10):1095-1102. doi: 10.1007/s00109-016-1416-1. Epub 2016 Apr 5. Citation on PubMed
  • Liddicoat BJ, Chalk AM, Walkley CR. ADAR1, inosine and the immune sensing system: distinguishing self from non-self. Wiley Interdiscip Rev RNA. 2016 Mar-Apr;7(2):157-72. doi: 10.1002/wrna.1322. Epub 2015 Dec 21. Citation on PubMed
  • Pestal K, Funk CC, Snyder JM, Price ND, Treuting PM, Stetson DB. Isoforms of RNA-Editing Enzyme ADAR1 Independently Control Nucleic Acid Sensor MDA5-Driven Autoimmunity and Multi-organ Development. Immunity. 2015 Nov 17;43(5):933-44. doi: 10.1016/j.immuni.2015.11.001. Citation on PubMed or Free article on PubMed Central
  • Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Citation on PubMed or Free article on PubMed Central
  • Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Marti-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Perez-Duenas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodriguez-Pombo P, Roubertie A, Stodberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10. Citation on PubMed
  • Zipeto MA, Jiang Q, Melese E, Jamieson CH. RNA rewriting, recoding, and rewiring in human disease. Trends Mol Med. 2015 Sep;21(9):549-59. doi: 10.1016/j.molmed.2015.07.001. Epub 2015 Aug 7. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.