Gene Symbol | ATN1 |
Entrez Gene ID | 1822 |
Full Name | atrophin 1 |
Synonyms | B37,D12S755E,DRPLA,HRS,NOD |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Dentatorubro-pallidoluysian atrophy, 125370 (3) |