Human Does not react with:
Mouse, Rat, Cow
Recombinant full length mature protein, corresponding to amino acids 56-210 of Human Frataxin (UniProt: Q16595).
Flow Cyt: HepG2 cells.
Product was previously marketed under the MitoSciences sub-brand.
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Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C. Stable for 12 months at -20°C. Store In the Dark.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ab171463-Mouse monoclonal IgG1, is suitable for use as an isotype control with this antibody.
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.
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.
Belongs to the frataxin family.
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.
Cytoplasm. Mitochondrion. PubMed:18725397 reports localization exclusively in mitochondria.
Overlay histogram showing HepG2 cells stained with ab156033 (red line). The cells were fixed with 4% formaldehyde (10 min) and then permeabilized with 0.1% PBS-Triton X-100 for 15 min. The cells were then incubated in 1x PBS / 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (ab156033, 1/50 dilution) for 30 min at 22°C.
Isotype control antibody (black line) was Mouse IgG1 - Alexa Fluor® 488 (ab171463) used at the same concentration and conditions as the primary antibody. Unlabelled sample (blue line) was also used as a control.
Acquisition of >5,000 events were collected using a 50 mW Blue laser (488nm) and 530/30 bandpass filter.
Flow cytometric analysis of Human lymphocytes labeling Frataxin with ab156033 at 0.2 µg/ml.
Lymphocytes were isolated from Control Patients (red), Freidrich Ataxia Carrier Patients (blue), and Friedrich Ataxia Patients (yellow).
IgG1 Alexa®488 conjugated Isotype control antibody (black at 0.2 µg/ml).