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Antibody detects endogenous levels of total Atrophin 1.
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.
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Protein Aliases: Atrophin-1; Atrophin1; dentatorubral pallidoluysian atrophy; Dentatorubral-pallidoluysian atrophy protein; Dentatorubral-pallidoluysian atrophy protein homolog
Gene Aliases: ATN1; Atr1; atrophin-1; B37; D12S755E; DRPLA; HRS; NOD
UniProt ID: (Human) P54259, (Mouse) O35126
Entrez Gene ID: (Human) 1822, (Mouse) 13498, (Rat) 29515
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