FXN Antibody – Rabbit Polyclonal

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: Mitochondrial; Motility/polarity/chemotaxis; EC 1.16.3.1

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: adult walking behavior; aerobic respiration; cellular iron ion homeostasis; embryonic development ending in birth or egg hatching; heme biosynthetic process; ion transport; iron incorporation into metallo-sulfur cluster; mitochondrion organization and biogenesis; negative regulation of apoptosis; negative regulation of multicellular organism growth; negative regulation of organ growth; oxidative phosphorylation; positive regulation of cell growth; positive regulation of cell proliferation; positive regulation of lyase activity; proprioception; protein autoprocessing; response to iron ion

Disease: Friedreich Ataxia 1