Full Product Name
FXN Antibody
Product Gene Name
anti-FXN antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q16595
Species Reactivity
Human, Mouse, Rat
Concentration
1.0mg/ml (lot specific)
Other Notes
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.
Applications Tested/Suitable for anti-FXN antibody
Western Blot (WB), Immunohistochemistry (IHC)
NCBI/Uniprot data below describe general gene information for FXN. It may not necessarily be applicable to this product.
NCBI Accession #
NP_000135.2
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NCBI GenBank Nucleotide #
NM_000144.4
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UniProt Primary Accession #
Q16595
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UniProt Secondary Accession #
O15545; O95656; Q15294; Q5VZ01; A8MXJ6; C9JJ89[Other Products]
UniProt Related Accession #
Q16595[Other Products]
Molecular Weight
21,416 Da
NCBI Official Full Name
frataxin, mitochondrial isoform 1 preproprotein
NCBI Official Synonym Full Names
frataxin
NCBI Official Symbol
FXN??[Similar Products]
NCBI Official Synonym Symbols
FA; X25; CyaY; FARR; FRDA
??[Similar Products]
NCBI Protein Information
frataxin, mitochondrial
UniProt Protein Name
Frataxin, mitochondrial
UniProt Synonym Protein Names
Friedreich ataxia protein; Fxn
UniProt Gene Name
FXN??[Similar Products]
UniProt Synonym Gene Names
FRDA; X25; Fxn; i-FXN??[Similar Products]
NCBI Summary for FXN
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 Comments for FXN
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: EC 1.16.3.1; Mitochondrial; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9q21.11
Cellular Component: cytosol; mitochondrial matrix; mitochondrion
Molecular Function: 2 iron, 2 sulfur cluster binding; ferric iron binding; ferrous iron binding; ferroxidase activity; iron-sulfur cluster binding; protein binding
Biological Process: cellular iron ion homeostasis; iron incorporation into metallo-sulfur cluster; negative regulation of apoptosis; positive regulation of catalytic activity; positive regulation of cell growth; positive regulation of cell proliferation; positive regulation of lyase activity; protein autoprocessing; response to iron ion
Disease: Friedreich Ataxia 1
Research Articles on FXN
1. The differentially expressed FXN regulates the development of congenital heart disease (CHD) and the differential expression was under the control of miRNA-145. These results might provide new insight into the understanding of CHD pathogenesis and may facilitate further therapeutic studies.
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