Frataxin, Mitochondrial

Preferred Label : Frataxin, Mitochondrial;

NCIt synonyms : EC 1.16.3.1; Frataxin; Fxn; Friedreich Ataxia Protein;

NCIt definition : Frataxin, mitochondrial (210 aa, 23 kDa) is encoded by the human FXN gene. This protein is involved in [2Fe-2S] cluster biogenesis and heme biosynthesis.;

NCIt note : Frataxin, mitochondrial is processed in two steps by mitochondrial processing peptidase (MPP), which cleaves the precursor to intermediate form (i-FXN) and then converts i-FXN to yield the predominant form, frataxin mature form (frataxin(81-210); m81-FXN). Additional processed forms, including frataxin(56-210) (m56-FXN) and frataxin(78-210) (d-FXN; m78-FXN), result from irregularities in the normal maturation process. (UniProt);

Details

Origin ID

C201201;

Currated CISMeF NLP mapping
- Frataxin [LOINC component]
- Frataxin [MeSH Descriptor]
- frataxin [MeSH concept]
OMIM relation
- Frataxin [OMIM gene]
See also inter- (CISMeF)
- Frataxin [OMIM gene]
- frataxin [HGNC gene]
- frataxin [ORDO Gene]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- FXN Gene [NCIt concept]
- Oxidoreductase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Mitochondrial Matrix [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Biosynthetic Process [NCIt concept]
- Cell Respiration [NCIt concept]
- Ion Transport Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Transmembrane Transport [NCIt concept]

Keyword's position in hierarchy(ies) :

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