Anti-ATXN3L抗体Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 （SCA3） ; also known as Machado-Joseph disease （MJD）. Spinocerebellar ataxia is a clinically and genetically heterogeneous g

产品编号 yb-4807R
英文名称 Anti-ATXN3L抗体
中文名称 小脑脊髓共济失调蛋白3抗体
别    名 ATX3L_HUMAN; ATXN3L; Machado-Joseph disease protein 1-like; MJDL; Putative ataxin-3-like protein.
Anti-ATXN3L抗体 
说 明 书 0.1ml  0.2ml  
研究领域 细胞生物  免疫学  染色质和核信号  表观遗传学  泛素  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, 
产品应用 WB=1:100-500 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （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.
分 子 量 41kDa
细胞定位 细胞膜 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human ATXN3L
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.

PubMed PubMed
产品介绍 background:
Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) ; also known as Machado-Joseph disease (MJD). 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 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 region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

Function:
Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro). 

Subcellular Location:
Nucleus (By similarity). 

Similarity:
Contains 1 Josephin domain.
Contains 2 UIM (ubiquitin-interacting motif) repeats. 

Database links:
UniProtKB/Swiss-Prot: Q9H3M9.2

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