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Frataxin protein (ab110353)

MSCatalog No. MSF42

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Overview

Product name

Frataxin protein
See all Frataxin products (3) ...

Protein description

Recombinant full length Human Frataxin (amino acids 56-210); 155 amino acids, MWt 17.3kDa. (UniProt ID = Q16595).

Uniprot accession

Q16595

Molecular weight

17.300kDa

Protein length

155 amino acids

Properties

E.C. Number

1.16.3.1

Form

Lyophilised:
Ships at 4°C. Store lyophilized powder at 4°C. Reconstitute with 0.2 mL of H2O to a final concentration of 60ng/mL. Reconstituted solution should be stored at -80°C. Concentration: 0.00006 mg/mL after reconstitution with 0.2 mL H2O

Storage instructions

Shipped at 4°C. Store lyophilized powder at 4°C. After reconstitution store at -80ºC. Avoid freeze / thaw cycles.

Storage buffer

Constituent: 1% BSA

Concentration

Concentration information loading...

Research areas

Metabolism >> Types of disease >> Cancer
Metabolism >> Pathways and Processes >> Mitochondrial Metabolism >> Mitochondrial markers
Signal Transduction >> Metabolism >> Mitochondrial
Tags & Cell Markers >> Subcellular Markers >> Organelles >> Mitochondria

  • Sandwich ELISA - Frataxin protein (ab110353)Sandwich ELISA - Frataxin protein (ab110353) image (enlarge)

Applications

Show applications key

Our Abpromise guarantee covers the use of ab110353 in the following tested applications.

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

Application notes

This peptide can be used with studies using ab110173.

Protein info

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.

Target information above from: UniProt accessionQ16595 The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010).

Information by UniProt

Frataxin protein images:

  Sandwich ELISA - Frataxin protein (ab110353)

Sandwich ELISA - Frataxin protein (ab110353)

Image showing standard curve using ab110353.

References for Frataxin protein (ab110353)

This product has been referenced in:

  • Rai M  et al. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS One 5:e8825 (2010).Read more (PubMed: 20098685) »
  • Willis JH  et al. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. Mol Genet Metab 94:491-7 (2008).Read more (PubMed: 18485778) »

See all 2 publications for this product

Publishing research using ab110353? Please let us know so that we can cite the reference in this datasheet

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"