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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ATN1BA-20-REGO | 20 (40 μL) | 200 μL |
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| ATN1BA-20-REGR | 20 (40 μL) | 200 μL |
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| ATN1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| ATN1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| ATN1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| ATN1BA-20-GROR | 20 (40 μL) | 200 μL |
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| ATN1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| ATN1BA-20-AQOR | 20 (40 μL) | 200 μL |
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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 7-35 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]
Gene Symbol : ATN1
Gene Name : Atrophin 1
Chromosome : CHR 12: 692,446,2-694,232,0
Locus : 12p13.31
Alt. Genes : FAM13A
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