Ataxin 1,脊髓小脑失调症蛋白1抗体

产品编号HZ-2732R
英文名称Ataxin 1
中文名称脊髓小脑失调症蛋白1抗体
别 名ATX1; ATXN1; SCA1; Ataxin 1; Ataxin-1; Ataxin1; Spinocerebellar ataxia type 1; ATX1_HUMAN.
规格价格0.1ml 0.2ml 
说 明 书0.1ml 0.2ml
研究领域染色质和核信号 神经生物学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat,
产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
Ataxin 1,脊髓小脑失调症蛋白1抗体分 子 量90kDa
细胞定位细胞核 细胞浆
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human Ataxin 1
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Ataxin 1,脊髓小脑失调症蛋白1抗体PubMedPubMed
产品介绍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. 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). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq].

Function:
The exact function of Ataxin 1 is unknown. It has been shown to bind RNA and may be involved in RNA biogenesis. Ataxin 1 is a polyglutamine repeat containing protein whose expansion causes spinocerebellar ataxia type-1 (SCA1)in humans. This also triggers the formation of nuclear inclusions.

Subunit:
Homooligomer. Interacts with CIC. Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L, USP7 and ZNF804A. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding.

Subcellular Location:
Cytoplasm. Nucleus. Note=Colocalizes with USP7 in the nucleus.

Ataxin 1,脊髓小脑失调症蛋白1抗体Tissue Specificity:
Widely expressed throughout the body.

Post-translational modifications:
Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract.
Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.

DISEASE:
Spinocerebellar ataxia 1 (SCA1) [MIM:164400]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Belongs to the ATXN1 family.
Contains 1 AXH domain.

Gene ID:
6310

Database links:
Entrez Gene: 6310 Human
Entrez Gene: 20238 Mouse
Entrez Gene: 25049 Rat
Omim: 601556 Human
SwissProt: P54253 Human
SwissProt: P54254 Mouse
SwissProt: Q63540 Rat
Unigene: 434961 Human
Unigene: 342683 Mouse
Unigene: 342686 Mouse
Unigene: 88438 Rat

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.