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ATN1 atrophin 1

Gene ID: 1822, updated on 23-Sep-2022
Gene type: protein coding
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]

Genomic context

Location:
12p13.31
Sequence:
Chromosome: 12; NC_000012.12 (6924459..6942321)
Total number of exons:
11

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