Anti-ATN1

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. Protein function: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation. Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats. [The UniProt Consortium]