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Anti-phospho-ATXN1(Thr236)磷酸化失调症蛋白1抗体
点击次数:223发布时间:2012/12/26 4:47:08
更新日期:2024/9/5 14:43:27
所 在 地:其它
产品型号:BY-5213R
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货号:BY-5213R
英文名称:Anti-phospho-ATXN1(Thr236)
中文名称:磷酸化失调症蛋白1抗体
其他名称:ATXN1; ATX1; D6S504E; SCA1; Ataxin-1; Spinocerebellar ataxia type 1.
抗体来源:Rabbit
克隆类型:polyclonal
蛋白分子量:
纯化方法:affinity purified by Protein A
交叉反应:mo, rat
产品介绍: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 contains41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1)."