Mouse anti-Human Frataxin Antibody | anti-FXN antibody

Frataxin (Mitochondrial Marker)

Cat. Num. AAA4380917

• Gene Names: FXN; FA; X25; CyaY; FARR; FRDA
• Reactivity: Human
• Applications: ELISA
• Purity: Purified Ab with BSA and Azide at 200ug/ml OR Purified Ab WITHOUT BSA and Azide at 1.0mg/ml
• Synonyms: Frataxin; Frataxin (Mitochondrial Marker); CyaY; d-FXN; FARR; Frataxin mature form; Frataxin (81-210); FRDA; Friedreich ataxia protein; Fxn; i-FXN; m56-FXN; m78-FXN; m81-FXN; X25; anti-FXN antibody

• Host: Mouse
• Reactivity: Human
• Isotype: IgG1, kappa
• Clone Number: rFXN/2124
• Specificity: Frataxin is a nuclear-encoded mitochondrial protein implicated in Friedreich's ataxia (FRDA), a human autosomal recessive neurodegenerative disease. Lack of Frataxin causes iron to accumulate in the mitochondrial matrix suggesting that Frataxin is involved in mitochondrial iron homeostasis and possibly in iron transport. Frataxin has an alpha-beta fold consisting of two helices flanking an antiparallel beta sheet.
• Purity/Purification: Purified Ab with BSA and Azide at 200ug/ml OR Purified Ab WITHOUT BSA and Azide at 1.0mg/ml
• Form/Format: 200ug/ml of Ab Purified from Bioreactor Concentrate by Protein A/G. Prepared in 10mM PBS with 0.05% BSA & 0.05% azide. Also available WITHOUT BSA & azide at 1.0mg/ml.
• Sequence Length: 210

• Applicable Applications for anti-FXN antibody: ELISA (EIA)
• Application Notes: ELISA: Use Ab at 2-4ug/ml for coating (Order Ab without BSA)
• Positive Control: HepG2, HL-60 or HEK293 cells. Pancreas and Liver.
• Immunogen: Recombinant human Frataxin protein fragment (around aa 57-210) (exact sequence is proprietary)
• Cellular Localization: Cytoplasmic (Mitochondria)
• Hu-chromosome Location: 9q21.11
• Antibody Type: Recombinant Mouse Monoclonal Antibody
• Preparation and Storage: Antibody with azide: store at 2 to 8 degree C.; Antibody without azide: store at -20 to -80 degree C.; Antibody is stable for 24 months. Non-hazardous. No MSDS required.

SDS-Page

(SDS-PAGE Analysis Purified Frataxin Recombinant Mouse Monoclonal Antibody (rFXN/2124). Confirmation of Purity and Integrity of Antibody.)

NCBI and Uniprot Product Information

• NCBI GI #: 6166193
• NCBI GeneID: 2395
• UniProt Accession #: Q16595
• Molecular Weight: 14kDa
• NCBI Official Full Name: Frataxin, mitochondrial
• NCBI Official Synonym Full Names: frataxin
• NCBI Official Symbol: FXN
• NCBI Official Synonym Symbols: FA; X25; CyaY; FARR; FRDA
• NCBI Protein Information: frataxin, mitochondrial
• UniProt Protein Name: Frataxin, mitochondrial
• Protein Family: Frataxin
• UniProt Gene Name: FXN
• UniProt Synonym Gene Names: FRDA; X25; Fxn; i-FXN
• UniProt Entry Name: FRDA_HUMAN

NCBI Description

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

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; positive regulation of transferase activity; proprioception; negative regulation of organ growth; positive regulation of cell growth; adult walking behavior; 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; negative regulation of apoptosis; positive regulation of oxidoreductase activity; oxidative phosphorylation; heme biosynthetic process

Disease: Friedreich Ataxia 1