Recombinant Human Frataxin, mitochondrial (FXN)

Uniprot Id

Q16595

Target Species

Human

Target Name

FXN

Target Full Name

Frataxin, mitochondrial

Target Function

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.

Target Involvement

Friedreich ataxia (FRDA)

Target Subcellular Location

Mitochondrion. Cytoplasm, cytosol.

Target Protein Families

Frataxin family

Target Tissue Specificity

Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.

Target Research Area

Tags & Cell Markers

Target Synonyms

CyaY; d-FXN; FA; FARR; Frataxin mature form; Frataxin(81-210); FRDA; FRDA_HUMAN; Friedreich ataxia protein; Fxn; i-FXN; m56-FXN; m78-FXN; m81-FXN; MGC57199; X25

Target Background

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.