ATN1-related genetic disorders are caused by changes in the ATN1 gene, which is located on chromosome 12. The ATN1 gene provides instructions for making a protein called atrophin 1.
Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in the brain, and is important in regulating development of other parts of the body. There are currently two known medical conditions caused by changes in the ATN1 gene: congenital ATN1 related disorder or CHEDDA, which this website focuses on, and a distinct inherited progressive neurological condition called DRPLA.

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