Overview

Description

  • NatureRecombinant
  • SourceSaccharomyces cerevisiae
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceMPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRG EDVYIVQSGCGEINDNLM ELLIMINACKIASASRVTAVIPCFPYARQD KKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQG FFDIPVDNLY AEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKER KKANEVDR MVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRV YAILTHGIFSGPAISRINNACFEAVVVT NTIPQEDKMKHCSKIQVIDI SMILAEAIRRTHNGESVSYLFSHVPL

Specifications

Our Abpromise guarantee covers the use of ab88987 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> 90 % SDS-PAGE.
    ab88987 was purified using affinity chromatography
  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20°C. Stable for 12 months at -20°C.

    Preservative: None
    Constituents: 30% Glycerol, 0.5% Triton-X-100, 50mM HEPES, 30mM Glutathione, 100mM Sodium chloride, 1mM DTT, pH 7.5

General Info

  • Alternative names
    • ARTS
    • CMTX5
    • Deafness 2 perceptive congenital
    • Deafness X linked 2 perceptive congenital
    • DFN2
    • DFNX1
    • EC 2.7.6.1
    • KIAA0967
    • Phosphoribosyl pyrophosphate synthase I
    • Phosphoribosyl pyrophosphate synthetase I
    • PPRibP
    • Prps1
    • PRPS1_HUMAN
    • PRS I
    • PRS-I
    • PRSI
    • Ribose phosphate pyrophosphokinase I
    • Ribose-phosphate pyrophosphokinase 1
    see all
  • FunctionCatalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
  • PathwayMetabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.
  • Involvement in diseaseDefects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]; also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.
    Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]; also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
    Defects in PRPS1 are the cause of ARTS syndrome (ARTS) [MIM:301835]; also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.
    Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1) [MIM:304500]; also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.
  • Sequence similaritiesBelongs to the ribose-phosphate pyrophosphokinase family.
  • Information by UniProt

References for Recombinant Human PRPS1 protein (ab88987)

ab88987 has not yet been referenced specifically in any publications.

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