Description

  • Product name

    Recombinant Human Frataxin protein
    See all Frataxin proteins and peptides
  • Purity

    > 95 % SDS-PAGE.
    ab95502 is purified using conventional chromatography techniques.
  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Full length protein
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      MGSSHHHHHH SSGLVPRGSH MLRTDIDATC TPRRASSNQR GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV SLHELLAAEL TKALKTKLDL SSLAYSGKDA
    • Predicted molecular weight

      21 kDa including tags
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab95502 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

  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.0154% DTT, 0.316% Tris HCl, 10% Glycerol

General Info

  • Alternative names

    • CyaY
    • d-FXN
    • FA
    • FARR
    • Frataxin mature form
    • Frataxin(81-210)
    • FRDA
    • FRDA_HUMAN
    • Friedreich ataxia protein
    • Fxn
    • i-FXN
    • m56-FXN
    • m78-FXN
    • m81-FXN
    • MGC57199
    • X25
    see all
  • Function

    Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.
  • Tissue specificity

    Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
  • Involvement in disease

    Defects in FXN are the cause of Friedreich ataxia (FRDA) [MIM:229300]. FRDA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.
  • Sequence similarities

    Belongs to the frataxin family.
  • Post-translational
    modifications

    Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.
  • Cellular localization

    Cytoplasm. Mitochondrion. PubMed:18725397 reports localization exclusively in mitochondria.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of 3µg ab95502.

References

ab95502 has not yet been referenced specifically in any publications.

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