Gene Symbol | FXN |
Entrez Gene ID | 2395 |
Full Name | frataxin |
Synonyms | CyaY,FA,FARR,FRDA,X25 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Friedreich ataxia, 229300 (3); Friedreich ataxia with retained reflexes, 229300 (3) |