产品概述：Recombinant protein of human ataxin 1 (ATXN1), transcript variant 2

蛋白长度：Recombinant protein was produced with GoldORF clone, [GH55229V]. Click on the GoldORF clone link to view cDNA and protein sequences.

表达系统：HEK293T

种属：Human

标签类型：C-Myc/DDK

分子量：86.7 kDa

通用名：ATXN1

总结：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. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]

形式：Liquid

浓度：>50 ug/mL as determined by microplate BCA method

纯度：> 80% as determined by SDS-PAGE and Coomassie blue staining

储存溶液：25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

别名：ATX1; D6S504E; SCA1