Overview

  • Product name
    Recombinant Human P5CS protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Molecular weight
      27 kDa
    • Amino acids
      10 to 257
    • Tags
      His-DHFR tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab127829 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 % Purified via His tag.
    Purity is >95% by SDS-PAGE.
  • Form
    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20ºC.

    Constituents: 0.32% Tris HCl, 0.58% Sodium chloride

  • Reconstitution
    Reconstitute with 100ul of water.

General Info

  • Alternative names
    • 2810433K04Rik
    • AI429789
    • Aldehyde dehydrogenase 18 family member A1
    • Aldehyde dehydrogenase 18A1
    • Aldehyde dehydrogenase family 18 member A1
    • ALDH18A1
    • Delta 1 pyrroline 5 carboxylate synthetase
    • Delta1 pyrroline 5 carboxlate synthetase
    • Gamma-glutamyl kinase
    • Gamma-glutamyl phosphate reductase
    • GK
    • Glutamate-5-semialdehyde dehydrogenase
    • Glutamyl-gamma-semialdehyde dehydrogenase
    • GPR
    • GSAS
    • MGC117316
    • MGC32233
    • P5CS
    • P5CS_HUMAN
    • PYCS
    • Pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase)
    see all
  • Pathway
    Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2.
    Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2.
  • Involvement in disease
    Defects in ALDH18A1 are the cause of mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]. Clinical manifestations include microcephaly, progressive neurologic dysfunction, mental retardation, progeroid appearance, joint hypermobility, skin laxity and hyperelasticity, cataracts. Some patients manifest metabolic disturbances such as hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia.
  • Sequence similarities
    In the N-terminal section; belongs to the glutamate 5-kinase family.
    In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.
  • Cellular localization
    Mitochondrion inner membrane.
  • Information by UniProt

References

ab127829 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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