中文名称:ATXN1抗原(重组蛋白)
英文名称: ATXN1 Antigen (Recombinant Protein)
别 名: ATX1; SCA1; D6S504E
储 存: 冷冻(-20℃)
相关类别: 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. | 
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