Frataxin ist ein Gen, das durch das Symbol FXN kodiert wird. Andere Namen sind: Frataxin, mitochondrial; Friedreich ataxia protein; Fxn; FXN; FRDA; X25. Frataxin hat eine Masse von 23.14kDa, eine Aminosäurelänge von 210, und ist an Friedreich ataxia beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
Rolle bei Krankheiten
Friedreich ataxia: 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.
Sequenzähnlichkeiten
Belongs to the frataxin family.
Posttranslationale Modifikation
Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.
Zellort
Mitochondrion. Cytoplasm > Cytosol.
PubMed:18725397 reports localization exclusively in mitochondria.
