Positive controls: Recombinant Human Frataxin; normal Human fibroblasts (MRC5); HL60 cells. This antibody gave a positive result in IHC in the following FFPE tissue: Human colon adenocarcinoma.
FXN is 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 results in Friedreich ataxia.
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Protein Aliases: d-FXN; Frataxin intermediate form; Frataxin mature form; Frataxin(56-210); Frataxin(78-210); Frataxin(81-210); Frataxin, mitochondrial; Friedreich ataxia protein; Fxn; i-FXN; m56-FXN; m78-FXN; m81-FXN
Gene Aliases: CyaY; FA; FARR; FRDA; FXN; X25
UniProt ID: (Human) Q16595
Entrez Gene ID: (Human) 2395