Frataxin; mitochondrial; Friedreich ataxia protein; Fxn; Frataxin intermediate form; i-FXN; Frataxin(56-210); m56-FXN; Frataxin(78-210); d-FXN; m78-FXN; Frataxin mature form; Frataxin(81-210); m81-FXN; FXN; FRDA; X25

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This FXN antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 36-64 amino acids from the N-terminal region of human FXN.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-FXN antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Metabolism; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

FXN Antibody (N-term) western blot analysis in SK-BR-3 cell line lysates (35ug/lane).This demonstrates the FXN antibody detected the FXN protein (arrow).

23135

frataxin

frataxin, mitochondrial

Frataxin, mitochondrial

FRDA; X25; Fxn; i-FXN??[Similar Products]

FRDA_HUMAN

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, Jun 2009]

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; EC 1.16.3.1; Mitochondrial

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 transferase activity; positive regulation of metalloenzyme activity; proprioception; negative regulation of organ growth; ***** walking behavior; positive regulation of cell growth; embryonic development ending in birth or egg hatching; protein autoprocessing; iron incorporation into metallo-sulfur cluster; positive regulation of lyase activity; positive regulation of cell proliferation; aerobic respiration; ion transport; response to iron ion; negative regulation of apoptosis; heme biosynthetic process; positive regulation of oxidoreductase activity; oxidative phosphorylation

Disease: Friedreich Ataxia 1

Tsai, C.L., et al. Biochemistry 49(43):9132-9139(2010)
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Marino, T.C., et al. Clin. Genet. 77(6):598-600(2010)
Li, K., et al. PLoS ONE 5 (8), E12286 (2010) :

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