Aliases for ATN1 Gene
External Ids for ATN1 Gene
Previous HGNC Symbols for ATN1 Gene
Previous GeneCards Identifiers for ATN1 Gene
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. [provided by RefSeq, Jul 2016]
GeneCards Summary for ATN1 Gene
ATN1 (Atrophin 1) is a Protein Coding gene. Diseases associated with ATN1 include Dentatorubral-Pallidoluysian Atrophy and Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is RERE.
UniProtKB/Swiss-Prot Summary for ATN1 Gene
Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats.