Recombinant full length protein corresponding to Human Frataxin. Database link: Q16595
WB: Jurkat, K562, Raji, DU 145 and HL-60 cell lysates; MDA-MB453s cell extract; Mouse heart and liver lysates.
IHC-P: Human liver cancer tissue; Mouse heart tissue; Rat heart, liver and kidney tissues.
ICC/IF: MCF7 and A549 cells.
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent concentration.
1/50 - 1/200.
ab171870 - Rabbit polyclonal IgG, is suitable for use as an isotype control with this antibody.
1/500 - 1/2000. Detects a band of approximately 14 kDa (predicted molecular weight: 23 kDa).
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.
Britti E et al. Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment. J Cell Mol Med22:834-848 (2018).
Read more (PubMed: 28980774) »
Lin H et al. Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. Dis Model Mech10:1343-1352 (2017).
Read more (PubMed: 29125827) »