Anti-Aprataxin抗体(ab13994)

概述

• 产品名称Anti-Aprataxin抗体
  参阅全部 Aprataxin 一抗
• 描述
  鸡多克隆抗体to Aprataxin
• 特异性Cross reacts with isoforms a, b and C.
• 经测试应用适用于: WBmore details
• 种属反应性
  与反应: Mouse, Rat, Human
  
• 免疫原

  Recombinant fragment, corresponding to amino acids 1-168 of Human Aprataxin.

性能

• 形式Liquid
• 存放说明Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
• 存储溶液Preservative: None
  Constituents: PBS
• Concentration information loading...
• 纯度Immunogen affinity purified
• 克隆多克隆
• 同种型IgY
• 研究领域
  • Epigenetics and Nuclear Signaling
  • DNA / RNA
  • DNA Damage & Repair
  • DNA Damage Response
  • Other

应用

靶标

• 功能DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.
• 组织特异性Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2.
• 疾病相关Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
  Defects in APTX are a cause of coenzyme Q10 deficiency (COQ10D) [MIM:607426]. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy.
• 序列相似性Contains 1 C2H2-type zinc finger.
  Contains 1 FHA-like domain.
  Contains 1 HIT domain.
• 结构域The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
  The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.
  The HIT domain is required for enzymatic activity.
  The C2H2-type zinc finger mediates DNA-binding.
• 细胞定位Nucleus > nucleoplasm. Nucleus > nucleolus. Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization.

• Target information above from: UniProt accession Q7Z2E3 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt
• 数据库链接
  • Entrez Gene: 54840 Human
  • Entrez Gene: 66408 Mouse
  • Entrez Gene: 259271 Rat
  • Omim: 606350 Human
  • SwissProt: Q7Z2E3 Human
  • SwissProt: Q7TQC5 Mouse
  • SwissProt: Q8K4H4 Rat
  • Unigene: 20158 Human

  • Unigene: 430710 Mouse
  • Unigene: 50459 Rat

  see all
• 别名
  • AOA 1 antibody
  • AOA antibody
  • AOA1 antibody

  • Aprataxin antibody
  • Aprataxin homolog antibody
  • Aptx antibody
  • APTX_HUMAN antibody
  • Ataxia 1 early onset with hypoalbuminemia antibody
  • Ataxia1 early onset with hypoalbuminemia antibody
  • AXA 1 antibody
  • AXA1 antibody
  • EAOH antibody
  • EOAHA antibody
  • FHA HIT antibody
  • FHA-HIT antibody
  • FLJ20157 antibody
  • Forkhead associated domain histidine triad like antibody
  • Forkhead associated domain histidine triad like protein antibody
  • Forkhead-associated domain histidine triad-like protein antibody
  • MGC1072 antibody

  see all