Recombinant Human Inosine triphosphate pyrophosphatase protein (ab123470)
- Datasheet
- Specific References (1)
- Protocols
Overview
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Product nameRecombinant Human Inosine triphosphate pyrophosphatase protein
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Protein lengthFull length protein
Description
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NatureRecombinant
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SourceEscherichia coli
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Amino Acid Sequence
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Accession
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SpeciesHuman
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SequenceMGSSHHHHHH 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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Molecular weight24 kDa including tags
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Amino acids1 to 194
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TagsHis tag N-Terminus
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Associated products
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Related Products
Specifications
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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Applications
SDS-PAGE
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Purity> 95 % SDS-PAGE.
ab123470 was purified by proprietary chromatographic techniques and filter sterilized. -
FormLiquid
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Additional notesAlthough 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...
Preparation and Storage
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Stability and Storage
Shipped at 4°C. Please see notes section.
pH: 8.00
Constituents: 0.24% Tris, 10% Glycerol
General Info
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Alternative names
- C20orf37
- dJ794I6.3
- HLC14-06-P
see all -
FunctionHydrolyzes 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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Tissue specificityUbiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.
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Involvement in diseaseDefects 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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Sequence similaritiesBelongs to the HAM1 NTPase family.
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Cellular localizationCytoplasm.
- Information by UniProt
References
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) »
Customer reviews and Q&As
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"