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ATN1 gene

atrophin 1

Normal Function

The ATN1 gene provides instructions for making a protein called atrophin 1. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain. Based on studies in other animals, researchers speculate that atrophin 1 may act as a transcriptional co-repressor. A transcriptional co-repressor is a protein that interacts with other DNA-binding proteins to suppress the activity of certain genes, although it cannot attach (bind) to DNA by itself.

One region of the ATN1 gene contains a particular DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. In most people, the number of CAG repeats in the ATN1 gene ranges from 6 to 35.

Health Conditions Related to Genetic Changes

Dentatorubral-pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) results from an increased number of copies (expansion) of the CAG trinucleotide repeat in the ATN1 gene. In people with this condition, the CAG segment is abnormally repeated at least 48 times, and the repeat region may be two or three times its usual length. Although the extended CAG region changes the structure of atrophin 1, it is unclear how the altered protein damages brain cells. Researchers believe that abnormal atrophin 1 accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of neurons in many parts of the brain lead to involuntary movements, intellectual decline, and the other characteristic features of DRPLA.

More About This Health Condition

Other Names for This Gene

  • atrophin-1
  • B37
  • D12S755E
  • dentatorubral-pallidoluysian atrophy protein
  • NOD

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


  • Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G. Molecular genetics and biomarkers of polyglutamine diseases. Curr Mol Med. 2008 May;8(3):221-34. doi: 10.2174/156652408784221298. Citation on PubMed
  • Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet. 1994 Oct;8(2):177-82. doi: 10.1038/ng1094-177. Citation on PubMed
  • Shen Y, Lee G, Choe Y, Zoltewicz JS, Peterson AS. Functional architecture of atrophins. J Biol Chem. 2007 Feb 16;282(7):5037-5044. doi: 10.1074/jbc.M610274200. Epub 2006 Dec 6. Citation on PubMed
  • Tsuji S. Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. Adv Neurol. 2002;89:231-9. No abstract available. Citation on PubMed
  • Whitton C, Palmer E, Alkuraya F. ATN1-Related Neurodevelopmental Disorder. 2022 Aug 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from Citation on PubMed
  • Wood JD, Nucifora FC Jr, Duan K, Zhang C, Wang J, Kim Y, Schilling G, Sacchi N, Liu JM, Ross CA. Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription. J Cell Biol. 2000 Sep 4;150(5):939-48. doi: 10.1083/jcb.150.5.939. Citation on PubMed or Free article on PubMed Central
  • Yamada M, Wood JD, Shimohata T, Hayashi S, Tsuji S, Ross CA, Takahashi H. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. Ann Neurol. 2001 Jan;49(1):14-23. doi: 10.1002/1531-8249(200101);2-x. 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.