Recombinant Human C2ORF25 protein (ab177650)

Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MGSSHHHHHH SSGLVPRGSH MGSSDESHVA AAPPDICSRT VWPDETMGPF GPQDQRFQLP GNIGFDCHLN GTASQKKSLV HKTLPDVLAE PLSSERHEFV MAQYVNEFQG NDAPVEQEIN SAETYFESAR VECAIQTCPE LLRKDFESLF PEVANGKLMI LTVTQKTKND MTVWSEEVEI EREVLLEKFI NGAKEICYAL RAEGYWADFI DPSSGLAFFG PYTNNTLFET DERYRHLGFS VDDLGCCKVI RHSLWGTHVV VGSIFTNATP DSHIMKKLSG N
    • Molecular weight
      31 kDa including tags
    • Amino acids
      39 to 296
    • Tags
      His tag N-Terminus
    • Additional sequence information
      NP_056517

Specifications

Our Abpromise guarantee covers the use of ab177650 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

    Mass Spectrometry

  • Mass spectrometry
    MALDI-TOF
  • Purity
    >90% by SDS-PAGE.
    ab177650 was purified using conventional chromatography techniques.
  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    Information available upon request.

General Info

  • Alternative names
    • C2orf25
    • cblD
    • Chromosome 2 open reading frame 25
    • CL25022
    • Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    • Methylmalonic aciduria and homocystinuria type D protein
    • methylmalonic aciduria and homocystinuria type D protein, mitochondrial
    • mitochondrial
    • MMAD_HUMAN
    • Mmadhc
    • Protein C2orf25, mitochondrial
    see all
  • Function
    Involved in cobalamin metabolism.
  • Tissue specificity
    Widely expressed at high levels.
  • Involvement in disease
    Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]. A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).
  • Cellular localization
    Mitochondrion.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of 3µg ab177650.

References

ab177650 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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