Rabbit anti-Mouse Frataxin Polyclonal Antibody | anti-FXN antibody
Frataxin (FXN)
Serum
Serum
Dilution: Western Blot: 1:1000-1:5000 (ECL).
ELISA: ~1:100,000. Coat with 50-100ng control peptide/well.
NCBI and Uniprot Product Information
NCBI Description
This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq]
Uniprot Description
FXN: 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. Defects in FXN are the cause of Friedreich ataxia (FRDA). 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Mitochondrial; EC 1.16.3.1
Chromosomal Location of Human Ortholog: 9q21.11
Cellular Component: mitochondrion; mitochondrial matrix; cytosol
Molecular Function: 2 iron, 2 sulfur cluster binding; ferroxidase activity; protein binding; ferric iron binding; ferrous iron binding; iron-sulfur cluster binding
Biological Process: mitochondrion organization and biogenesis; negative regulation of multicellular organism growth; cellular iron ion homeostasis; positive regulation of metalloenzyme activity; proprioception; positive regulation of transferase activity; negative regulation of organ growth; adult walking behavior; positive regulation of cell growth; protein autoprocessing; embryonic development ending in birth or egg hatching; iron incorporation into metallo-sulfur cluster; positive regulation of lyase activity; positive regulation of cell proliferation; aerobic respiration; ion transport; response to iron ion; heme biosynthetic process; oxidative phosphorylation; positive regulation of oxidoreductase activity; negative regulation of apoptosis
Disease: Friedreich Ataxia 1
Research Articles on FXN
2. there is a a severe depletion of CTCF in the 5'UTR of the FXN gene in FRDA, and coincident heterochromatin formation involving the +1 nucleosome via enrichment of H3K9me3 and recruitment of heterochromatin protein 1
3. Data show that -terminus region is flexible and intrinsically unfolded in human frataxin.
4. frataxin deficiency triggers inflammatory changes and death of Schwann cells that is inhibitable by inflammatory and anti-apoptotic drugs.
5. Molecular genetic studies revealed that all Friedreich's ataxia patients in the Paphos district of Cyprus had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the frataxin gene.
6. Azelaoyl PAF significantly increases the intracellular frataxin levels by twofold in the neuroblastoma cell line SKNBE and fibroblasts from FRDA patients and Azelaoyl PAF increases frataxin protein through a transcriptional mechanism.
7. The PPARG pathway is dysregulated in frataxin deficient mice and Friedreich's ataxia patients.
8. Regulatory effects of recombinant human erythropoietin occur at the post-translational level.
9. identification nof a novel point mutation (c.165 + 1 G ] A) which involves the consensus GT dinucleotide in the 3'splice acceptor site of intron 1 of the frataxin gene in two compound heterozygous siblings with Friedreich ataxia
10. We did not find any mutations or polymorphisms, nor expansion of the intronic trinucleotide repeat of the frataxin gene in refractory anemia with ring sideroblasts
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Product Notes
The FXN x25 (Catalog #AAA614660) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Frataxin (FXN) reacts with Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's Frataxin can be used in a range of immunoassay formats including, but not limited to, ELISA (EL/EIA), Western Blot (WB). Suitable for use in ELISA and Western Blot. Dilution: Western Blot: 1:1000-1:5000 (ECL). ELISA: ~1:100,000. Coat with 50-100ng control peptide/well. Researchers should empirically determine the suitability of the FXN x25 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Frataxin, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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