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DRPLA / Atrophin-1

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 7-23 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

Publications (1)

1
Dental cell type atlas reveals stem and differentiated cell types in mouse and human teeth. Jan Krivanek, Ruslan A Soldatov, Maria Eleni Kastriti, Tatiana Chontorotzea, Anna Nele Herdina, Julian Petersen, Bara Szarowska, Marie Landova, Veronika Kovar Matejova, Lydie Izakovicova Holla, Ulrike Kuchler, Ivana Vidovic Zdrilic, Anushree Vijaykumar, Anamaria Balic, Pauline Marangoni, Ophir D Klein, Vitor C M Neves, Val Yianni, Paul T Sharpe, Tibor Harkany, Brian D Metscher, Marc Bajénoff, Mina Mina, Kaj Fried, Peter V Kharchenko, Igor Adameyko. Nature communications. 2020 September;11:4816. [Full Text Article] [PubMed:32968047] [PMC:PMC7511944] Related Antibodies: LS-C352119.

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Proteins (4)
Over-Expression Lysate (2)
Recombinant (2)
DRPLA / Atrophin-1 (4)
No (4)
GST, N-terminus (1)
His-T7 (1)
Myc-DDK (Flag) (2)
Human (3)
293T Cells (1)
E. coli (1)
HEK 293 Cells (1)
Wheat Germ Extract (1)
DRPLA / Atrophin-1 Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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293T Cells
Myc-DDK (Flag)
125.2 kDa
20 µg/$215
DRPLA / Atrophin-1 Protein - 12.5% SDS-PAGE Stained with Coomassie Blue.
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Wheat Germ Extract
GST, N-terminus
10 µg/$479; 25 µg/$670
DRPLA / Atrophin-1 Protein - Recombinant Atrophin 1 By SDS-PAGE
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E. coli
His-T7
38.2 kDa
10 µg/$272; 50 µg/$387; 100 µg/$620; 200 µg/$772; 1 mg/$1,834; 500 µg/$1,393; 5 mg/$2,794; 2 mg/$2,016
DRPLA / Atrophin-1 Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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HEK 293 Cells
Myc-DDK (Flag)
125.2 kDa
100 µg/$710
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For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).