Overview

  • Product name

    Recombinant Human MMADHC protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPD ICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLP DVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAI QTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVL LEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYR HLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN
    • Amino acids

      1 to 296
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab162126 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.

     This product was previously labelled as C2ORF25

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

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

  • ab162126 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab162126 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab162126.
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