FXN wt Allele - CISMeF

Preferred Label : FXN wt Allele;

NCIt synonyms : CyaY; Friedreich Ataxia Gene; Frataxin wt Allele; X25; FA; FARR; FRDA;

NCIt definition : Human FXN wild-type allele is located in the vicinity of 9q21.11 and is approximately 43 kb in length. This allele, which encodes frataxin, mitochondrial protein, plays a role in transport and storage of iron and the assembly of iron-sulfur clusters. Expansion of the intronic trinucleotide repeat GAA from 8-33 repeats to more than 90 repeats is associated with Friedreich ataxia.;

GenBank Accession Number : U43752;

Details

Origin ID

C201200;

OMIM relation
- Frataxin [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q21.11 [NCIt concept]
gene_is_element_in_pathway
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_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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