Recombinant Human Aprataxin protein (ab93630)
Key features and details
- Expression system: Escherichia coli
- Purity: > 95% SDS-PAGE
- Suitable for: SDS-PAGE
製品の詳細
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製品名
Recombinant Human Aprataxin protein -
精製度
> 95 % SDS-PAGE.
ab93630 is purified using conventional chromatography techniques. -
発現系
Escherichia coli -
タンパク質長
Full length protein -
Animal free
No -
由来
Recombinant -
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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
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関連製品
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Related Products
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.
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アプリケーション
SDS-PAGE
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製品の状態
Liquid -
Concentration information loading...
前処理および保存
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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.
pH: 7.50
Constituents: 0.00174% PMSF, 0.316% Tris HCl, 20% Glycerol (glycerin, glycerine), 0.58% Sodium chloride
関連情報
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別名
- AOA
- AOA 1
- AOA1
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
プロトコール
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
データシートおよび資料
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SDS download
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Datasheet download
参考文献 (0)
ab93630 は論文での使用が確認できていません。