Recombinant Human Inosine triphosphate pyrophosphatase protein (ab123470)

Overview

  • Product name
    Recombinant Human Inosine triphosphate pyrophosphatase protein
  • Protein length
    Full length protein

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MGSSHHHHHH SSGLVPRGSH MMAASLVGKK IVFVTGNAKK LEEVVQILGD KFPCTLVAQK IDLPEYQGEP DEISIQKCQE AVRQVQGPVL VEDTCLCFNA LGGLPGPYIK WFLEKLKPEG LHQLLAGFED KSAYALCTFA LSTGDPSQPV RLFRGRTSGR IVAPRGCQDF GWDPCFQPDG YEQTYAEMPK AEKNAVSHRF RALLELQEYF GSLAA
    • Molecular weight
      24 kDa including tags
    • Amino acids
      1 to 194
    • Tags
      His tag N-Terminus

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.

  • Applications

    SDS-PAGE

  • Purity
    > 95 % SDS-PAGE.
    ab123470 was purified by proprietary chromatographic techniques and filter sterilized.
  • Form
    Liquid
  • Additional notes
    Although stable at 4°C for 1 week, ab123470 should be stored desiccated below -18°C. Please prevent freeze thaw cycles
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Please see notes section.

    pH: 8.00
    Constituents: 0.24% Tris, 10% Glycerol

General Info

  • Alternative names
    • C20orf37
    • dJ794I6.3
    • HLC14-06-P
    • Inosine triphosphatase
    • Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
    • inosine triphosphatase-A
    • Inosine triphosphate pyrophosphatase
    • Inosine triphosphate pyrophosphohydrolase
    • Itpa
    • ITPA_HUMAN
    • ITPase
    • My049
    • My049 protein
    • Non canonical purine NTP pyrophosphatase
    • Non standard purine NTP pyrophosphatase
    • NTPase
    • nucleoside triphosphate diphosphatase
    • Nucleoside triphosphate pyrophosphatase
    • OK/SW-cl.9
    • OTTHUMP00000030094
    • OTTHUMP00000160459
    • Putative oncogene protein hlc14-06-p
    see all
  • Function
    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.
  • Tissue specificity
    Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.
  • Involvement in disease
    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.
  • Sequence similarities
    Belongs to the HAM1 NTPase family.
  • Cellular localization
    Cytoplasm.
  • Information by UniProt

References for Recombinant Human Inosine triphosphate pyrophosphatase protein (ab123470)

ab123470 has not yet been referenced specifically in any publications.

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