Reviewed November 2008
What is the official name of the ATN1 gene?
The official name of this gene is “atrophin 1.”
ATN1 is the gene's official symbol. The ATN1 gene is also known by other names, listed below.
What is the normal function of the ATN1 gene?
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.
How are changes in the ATN1 gene related to health conditions?
- dentatorubral-pallidoluysian atrophy - caused by mutations in the ATN1 gene
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.
Where is the ATN1 gene located?
Cytogenetic Location: 12p13.31
Molecular Location on chromosome 12: base pairs 6,924,462 to 6,942,320
The ATN1 gene is located on the short (p) arm of chromosome 12 at position 13.31.
More precisely, the ATN1 gene is located from base pair 6,924,462 to base pair 6,942,320 on chromosome 12.
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 ATN1?
You and your healthcare professional may find the following resources about ATN1 helpful.
Educational resources - Information pages
- Biochemistry (fifth edition, 2002): Some genetic diseases are caused by the expansion of repeats of three nucleotides (http://www.ncbi.nlm.nih.gov/books/NBK22525/)
- Human Molecular Genetics (second edition, 1999): The pathogenic potential of repeated sequences (http://www.ncbi.nlm.nih.gov/books/NBK7566/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1491)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ATN1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1822%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28ATN1%5BTIAB%5D%29%20OR%20%28atrophin%201%5BTIAB%5D%29%29%20OR%20%28%28atrophin-1%5BTIAB%5D%29%20OR%20%28DRPLA%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20360%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/607462)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1822)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3033)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1822)
What other names do people use for the ATN1 gene or gene products?
- dentatorubral-pallidoluysian atrophy protein
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 ATN1?
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18473821?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/7842016?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1822)
- Shen Y, Lee G, Choe Y, Zoltewicz JS, Peterson AS. Functional architecture of atrophins. J Biol Chem. 2007 Feb 16;282(7):5037-44. Epub 2006 Dec 6. (http://www.ncbi.nlm.nih.gov/pubmed/17150957?dopt=Abstract)
- Tsuji S. Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. Adv Neurol. 2002;89:231-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11968450?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/10973986?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/11198291?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.