中文名稱:ATXN1抗原(重組蛋白)
英文名稱: ATXN1 Antigen (Recombinant Protein)
別 名: ATX1; SCA1; D6S504E
儲 存: 冷凍(-20℃)
相關(guān)類別: 抗原
概 述:
Fusion protein corresponding to C terminal 270 amino acids of human ATXN1 |
Full name: |
ataxin 1 |
Synonyms: |
ATX1; SCA1; D6S504E |
Swissprot: |
P54253 |
Gene Accession: |
BC117125 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. |