Recombinant Human Aprataxin protein (ab93630)

製品の概要

製品の詳細

  • 由来
    Recombinant
  • 由来
    Escherichia coli
  • アミノ酸配列
    • 生物種
      Human
    • 配列
      MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWAGSMQD PKMQVYKDEQ VVVIKDKYPK ARYHWLVLPW TSISSLKAVA REHLELLKHM HTVGEKVIVD FAGSSKLRFR LGYHAIPSMS HVHLHVISQD FDSPCLKNKK HWNSFNTEYF LESQAVIEMV QEAGRVTVRD GMPELLKLPL RCHECQQLLP SIPQLKEHLR KHWTQ
    • 領域
      1 to 168

特性

Our Abpromise guarantee covers the use of ab93630 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • アプリケーション

    SDS-PAGE

  • 精製度
    > 95 % SDS-PAGE.
    ab93630 is purified using conventional chromatography techniques.
  • 製品の状態
    Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    Preservative: None
    Constituents: 20% Glycerol, 20mM Tris HCl, 100mM Sodium chloride, 0.1mM PMSF, pH 7.5

関連情報

  • 別名
    • AOA
    • AOA 1
    • AOA1
    • Aprataxin
    • Aprataxin homolog
    • Aptx
    • APTX_HUMAN
    • Ataxia 1 early onset with hypoalbuminemia
    • Ataxia1 early onset with hypoalbuminemia
    • AXA 1
    • AXA1
    • EAOH
    • EOAHA
    • FHA HIT
    • FHA-HIT
    • FLJ20157
    • Forkhead associated domain histidine triad like
    • Forkhead associated domain histidine triad like protein
    • Forkhead-associated domain histidine triad-like protein
    • MGC1072
    see all
  • 機能
    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.
  • 組織特異性
    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.
  • 関連疾患
    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.
  • 配列類似性
    Contains 1 C2H2-type zinc finger.
    Contains 1 FHA-like domain.
    Contains 1 HIT domain.
  • ドメイン
    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.
  • 細胞内局在
    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.
  • Information by UniProt

画像

  • 15% SDS-PAGE showing ab93630 at approximately 23.9kDa (3µg).

参考文献

ab93630 has not yet been referenced specifically in any publications.

レビューと Q&A

There are currently no Customer reviews or Questions for ab93630.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

登録