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Concept information

Preferred term

Frataxin  

Type

  • Topical Descriptor

Entry terms

  • Ataxia Protein, Friedreich
  • Frataxin, FXN
  • Frataxin Protein
  • Friedreich Ataxia Protein
  • FXN Frataxin
  • Protein, Frataxin
  • Protein, Friedreich Ataxia

Scope note

  • A protein involved in the transfer of iron and sulfur to iron-sulfur cluster (ISC) assembly complex for de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. Deficiency leads to the neurodegenerative disease FRIEDREICH ATAXIA.

History note

  • 2024 (1996)

In other languages

URI

http://www.yso.fi/onto/mesh/D000096923

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