英文名：Anti-ATXN1 rabbit polyclonal antibody

别名：ataxin 1; ATX1; SCA1: D6S504E

相关类别：一抗

宿主：Rabbit

克隆类型：rabbit polyclonal

储存：冷冻-20℃

反应种属：Human, Mouse, Rat

抗原：ATXN1

概述

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.

兔抗ATXN1多克隆抗体

应用

酶联免疫吸附测定（ELISA），免疫印迹（WB）

属性