ATN1 : atrophin 1
Description
The ATN1 (atrophin 1) is a protein-coding gene located on chromosome 12.
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. 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.
ATN1 is also known as B37, CHEDDA, D12S755E, DRPLA, HRS, NOD.
Associated Diseases
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- Dentatorubral pallidoluysian atrophy
- Dentatorubral-pallidoluysian atrophy
