Overview

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionP35270
    • SpeciesHuman
    • SequenceMGSSHHHHHHSSGLVPRGSHMEGGLGRAVCLLTGASRGFGRTLAPLLASL LSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLL GALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQVNNYWALNLTS MLCLTSSVLKAFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDML FQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGK LVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK
    • Molecular weight30 kDa including tags
    • Amino acids1 to 261
    • TagsHis tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab117189 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.
    ab117189 is purified by proprietary chromatographic techniques.
  • FormLiquid
  • Additional notesStore at 4°C if entire vial will be used within 2-4 weeks. Store frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Please see notes section.

    pH: 8.00
    Constituent: 0.32% Tris HCl

General Info

  • Alternative names
    • OTTHUMP00000160199
    • SDR38C1
    • Sepiapterin reductase
    • Sepiapterin reductase (7,8 dihydrobiopterin:NADP+ oxidoreductase)
    • Short chain dehydrogenase/reductase family 38C, member 1
    • SPR
    • SPRE_HUMAN
    see all
  • FunctionCatalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
  • Involvement in diseaseDefects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
  • Sequence similaritiesBelongs to the sepiapterin reductase family.
  • Post-translational
    modifications
    In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters.
  • Cellular localizationCytoplasm.
  • Information by UniProt

References for Recombinant Human SPR protein (ab117189)

ab117189 has not yet been referenced specifically in any publications.

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