ATN1; D12S755E; DRPLA; Atrophin-1; Dentatorubral-pallidoluysian atrophy protein
宿主:
Rabbit
稀释比:
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.
免疫原:
The antiserum was produced against synthesized peptide derived from human ATN1. AA range:81-130
储存条件:
-20°C/1 year
克隆性:
Polyclonal
抗体亚型:
IgG
浓度:
1 mg/ml
实测条带:
130kD
基因ID:
1822
蛋白序列:
P54259
细胞定位:
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. .
研究背景:
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],