Recombinant Human Inosine triphosphate pyrophosphatase protein (ab123470)
製品の概要
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製品名Recombinant Human Inosine triphosphate pyrophosphatase protein
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タンパク質長Full length protein
製品の詳細
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由来Recombinant
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由来Escherichia coli
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アミノ酸配列
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アクセッション番号
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生物種Human
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配列MGSSHHHHHH SSGLVPRGSH MMAASLVGKK IVFVTGNAKK LEEVVQILGD KFPCTLVAQK IDLPEYQGEP DEISIQKCQE AVRQVQGPVL VEDTCLCFNA LGGLPGPYIK WFLEKLKPEG LHQLLAGFED KSAYALCTFA LSTGDPSQPV RLFRGRTSGR IVAPRGCQDF GWDPCFQPDG YEQTYAEMPK AEKNAVSHRF RALLELQEYF GSLAA
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分子量24 kDa including tags
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領域1 to 194
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タグHis tag N-Terminus
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関連製品
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Related Products
特性
Our Abpromise guarantee covers the use of ab123470 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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精製度> 95 % SDS-PAGE.
ab123470 was purified by proprietary chromatographic techniques and filter sterilized. -
製品の状態Liquid
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備考Although stable at 4°C for 1 week, ab123470 should be stored desiccated below -18°C. Please prevent freeze thaw cycles
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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. Please see notes section.
pH: 8.00
Constituents: 0.24% Tris, 10% Glycerol
関連情報
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別名
- C20orf37
- dJ794I6.3
- HLC14-06-P
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機能Hydrolyzes ITP and dITP to their respective monophosphate derivatives. Xanthosine 5'-triphosphate (XTP) is also a potential substrate. May be the major enzyme responsible for regulating ITP concentration in cells.
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組織特異性Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.
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関連疾患Defects in ITPA are the cause of inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]. It is a common inherited trait characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes and also leukocytes and fibroblasts. The pathological consequences of ITPA deficiency, if any, are unknown. However, it might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme.
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配列類似性Belongs to the HAM1 NTPase family.
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細胞内局在Cytoplasm.
- Information by UniProt
参考文献
This product has been referenced in:
- Ji D et al. Measuring deaminated nucleotide surveillance enzyme ITPA activity with an ATP-releasing nucleotide chimera. Nucleic Acids Res 45:11515-11524 (2017). Read more (PubMed: 29036687) »
レビューと Q&A
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"