|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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.
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.
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.
You and your healthcare professional may find the following resources about ATN1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adenine ; aggregate ; atrophy ; cell ; co-repressor ; cytosine ; DNA ; gene ; guanine ; involuntary ; mutation ; protein ; repressor ; trinucleotide repeat
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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.