Protein Name | frataxin |
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Organism | Homo sapiens |
Gene ID | 2395 |
Gene Symbol | FXN |
UniProt | Q16595 (FRDA_HUMAN), A0A0S2Z3G4 (A0A0S2Z3G4_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
239
Total Number of Articles : 537 |
Description |
frataxin |
Gene 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] |
synonyms |
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Properties | |