Recombinant Human MMACHC protein (ab126674)

Overview

  • Product name
    Recombinant Human MMACHC 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
  • 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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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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