ATXN7
适用: 小鼠, 大鼠
WB, IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 647
应用备注
IHC 1:50-1:300, ELISA 1:5000-1:10000
限制
仅限研究用
状态
Liquid
浓度
0.9 mg/mL
缓冲液
PBS with 0.05 % Sodium azide and 40 % Glycerol, pH 7.4
储存液
Sodium azide
注意事项
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
储存条件
-20 °C
储存方法
Store at -20°C. Avoid freeze / thaw cycles.
抗原
ATXN7
(Ataxin 7 (ATXN7))
别名
ATXN7
背景
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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants.