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Atrophin-1 rabbit pAb

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],

Product Specifications

Background

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]

Synonyms

ATN1; D12S755E; DRPLA; Atrophin-1; Dentatorubral-pallidoluysian atrophy protein

Gene ID

1822

UniProt

P54259

Cellular Locus

Nucleus. Cytoplasm, perinuclear region. Cell junction. Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles..

Host

Rabbit

Species Reactivity

Human,Mouse,Rat

Reactivity

Human; Mouse; Rat

Immunogen

The antiserum was produced against synthesized peptide derived from human ATN1. AA range:81-130

Clonality

Polyclonal

Isotype

IgG

Source

Rabbit

Applications

WB, ELISA

Validated Applications

WB,ELISA

Stability

-20°C/1 year

Concentration

1 mg/mL

Dilution

Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.

Molecular Weight

130kD

Storage Conditions

PBS with 0.02% sodium azide and 50% glycerol pH 7.4. Store at -20°C. Avoid repeated freeze-thaw cycles.

Product Datasheet

https://www.elkbiotech.com/upload/file/Antibodies/pAb/ES1734-1.pdf

Observed Molecular Weight

130 kD

Subcellular Location

Nucleus. Cytoplasm, perinuclear region. Cell junction . Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity) . Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. .

Other Product Names

ATN1; D12S755E; DRPLA; Atrophin-1; Dentatorubral-pallidoluysian atrophy protein

Gene ID (Human)

1822

SwissProt (Human)

P54259

Available Sizes

Curated Selection

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