Concept information
Preferred term
Frataxin
Type
-
Topical Descriptor
Broader concept
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
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D000096923
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