Entrez gene ID | | 1822 |
Official gene symbol | | ATN1 |
Full name | | atrophin 1 |
Aliases | | ,B37,D12S755E,DRPLA,HRS,NOD, |
Gene 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 7-23 copies to 49-75 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] |
Location | | Chromosome: 12 Locus: 12p13.31 |
Gene position | | 7033626 - 7051484 Map Viewer |
Gene orientation | | plus |
Gene size | | 17859 bp |
Gene sequence |
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OMIM ID | | 607462 |
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