FXN (AAH48097.1, 91 a.a. ~ 200 a.a) partial recombinant protein with GST tag. The sequence is DETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTP NKQIWLSSPSSGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDL
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.
Pathway
HIF-2-alpha transcription factor network; Metabolism of proteins; Mitochondrial protein import;
Citations
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