磷酸化失调症蛋白1抗体
规格：1mg/1ml
英文名： phospho-Ataxin-1 (Ser238)
别名： Ataxin-1 (phospho-Ser238); Ataxin-1 (phospho S238); ATXN1; ATX1; D6S504E; SCA1; Ataxin-1; Spinocerebellar ataxia type 1; ATX1_HUMAN.
分子量： 90kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthesised phosphopeptide derived from human
交叉反应：Human, Dog, Horse, Rabbit, Guinea Pig,
细胞定位：细胞核 细胞浆
磷酸化失调症蛋白1抗体产品介绍：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). Function: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function. Subunit: Homooligomer. Interacts with CIC (By similarity). 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.磷酸化失调症蛋白1抗体 Subcellular Location: Cytoplasm. Nucleus. Note=Colocalizes with USP7 in the nucleus. 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 磷酸化失调症蛋白1抗体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 Omim: 601556 Human SwissProt: P54253 Human SwissProt: P54254 Mouse Unigene: 434961 Human Unigene: 342683 Mouse Unigene: 342686 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
磷酸化失调症蛋白1抗体产品应用：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.
研究领域：肿瘤 **学 神经生物学 信号转导 细胞凋亡 转录调节因子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid