ATN1, Official Symbol ATN1provided by HGNC Official Full Name atrophin 1provided by HGNC Primary source HGNC:HGNC:3033 See related Ensembl:ENSG00000111676 MIM:607462; AllianceGenome:HGNC:3033 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B37; HRS; NOD; DRPLA; CHEDDA; D12S755E Summary 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] Expression Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues See more Orthologs mouse all