Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein.ATN1 (Atrophin 1) is a Protein Coding gene. Diseases associated with ATN1 include Dentatorubro-Pallidoluysian Atrophy and Spinocerebellar Ataxia 1. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is RERE.
