Overview

  • Product name

    Recombinant Human MMACHC/CblC protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MGSSHHHHHH SSGLVPRGSH MGSHMEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTP AMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGA AYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGF NFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRA RSWLSPRVSP PASPGP
    • Molecular weight

      34 kDa including tags
    • Amino acids

      1 to 282
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab126674 in the following tested applications.

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

  • Applications

    Mass Spectrometry

    SDS-PAGE

  • Mass spectrometry

    MALDI-TOF
  • Purity

    > 90 % SDS-PAGE.
    Purified using conventional chromatography techniques
  • Form

    Liquid
  • Additional notes

     This product was previously labelled as MMACHC

     

  • 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.

    pH: 8.00
    Constituents: 0.02% DTT, 0.32% Tris HCl, 10% Glycerol, 0.88% Sodium chloride

General Info

  • Alternative names

    • 1810037K07Rik
    • BOS_3654
    • cblC
    • DKFZp564I122
    • FLJ25671
    • Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria
    • Methylmalonic aciduria and homocystinuria type C protein
    • Methylmalonic aciduria and homocystinuria type C protein homolog
    • MGC134307
    • MMAC_HUMAN
    • MMACHC
    • OTTHUMP00000009243
    • RP11 291L19.3
    • RP23-177C18.3
    see all
  • Function

    May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).
  • Tissue specificity

    Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.
  • Pathway

    Cofactor biosynthesis; adenosylcobalamin biosynthesis.
  • Involvement in disease

    Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]. MMACHC is a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.
  • Sequence similarities

    Belongs to the MMACHC family.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of ab126674 (3 µg)

References

ab126674 has not yet been referenced specifically in any publications.

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