DISEASES

Disease-gene associations mined from literature

Literature associating FXN and familial isolated deficiency of vitamin E

FXN [ENSP00000366482]

Friedreich ataxia protein; 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.

Synonyms:  FXN,  C9JAX1,  Q16595,  C9JAX1p,  hC9JAX1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM