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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.
Gene Name: | atrophin 1 |
Synonyms: | ATN1, B37, Atrophin 1, D12S755E, NOD, HRS, Atrophin-1, DRPLA |
Target Sequences: | NM_001940 NP_001931.2 P54259 |
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