Entrez gene ID | | 2395 |
Official gene symbol | | FXN |
Full name | | frataxin |
Aliases | | ,CyaY,FA,FARR,FRDA,MGC57199,X25, |
Gene summary | | This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q13-q21.1 |
Gene position | | 71650479 - 71715094 Map Viewer |
Gene orientation | | plus |
Gene size | | 64616 bp |
Gene sequence |
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OMIM ID | | 606829 |
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