脊髓小脑性共济失调蛋白3抗体
规格：1mg/1ml
英文名： Ataxin 3
别名： AT3; Ataxin 3; Ataxin-3; ATX3; ATX3_HUMAN; ATXN3; EC 3.4.22.; JOS; Josephin; Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); Machado Jos
分子量： 42kDa
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 synthetic peptide derived from human Ataxin 3
交叉反应：Human, Mouse, Rat,
细胞定位：细胞核
脊髓小脑性共济失调蛋白3抗体产品介绍：background: Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] Function: Interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription. Acts as a histone-binding protein that regulates transcription. Acts as a deubiquitinating enzyme. Subcellular Location: Nucleus matrix. Predominantly nuclear, but not exclusively, inner nuclear matrix. Tissue Specificity: Ubiquitous. DISEASE: Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) [MIM:109150]; also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders脊髓小脑性共济失调蛋白3抗体. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3 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. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding 脊髓小脑性共济失调蛋白3抗体region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Similarity: Contains 1 Josephin domain. Contains 3 UIM (ubiquitin-interacting motif) repeats. Database links: Entrez Gene: 4287 Human Entrez Gene: 110616 Mouse Entrez Gene: 60331 Rat Omim: 607047 Human SwissProt: P54252 Human SwissProt: Q9CVD2 Mouse SwissProt: O35815 Rat Unigene: 532632 Human Unigene: 271914 Mouse Unigene: 42932 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
脊髓小脑性共济失调蛋白3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：细胞生物 发育生物学 神经生物学 表观遗传学 泛素
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid