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

Product Name Alternative

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

UniProt

P54259

Swiss Prot

P54259

Reactivity

Human; Mouse; Rat

Immunogen

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

Target

Atrophin-1

Clonality

Polyclonal

Source

Rabbit

Applications

WB; ELISA

Concentration

1 mg/ml

Dilution

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

Buffer

-20°C/1 year

Molecular Weight

130kD

Storage Conditions

-20°C/1 year

Observed Molecular Weight

130kD

Fragment

IgG

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. .