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FXN
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Transporters
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Hepatocytes)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of>1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular weight aggregates that incorporate iron (PubMed:11823441, PubMed:12755598, PubMed:15641778, PubMed:15581888). Interacts with LYRM4 (PubMed:17331979). Interacts with ACO1 (PubMed:20053667). Interacts with ISCU isoform 1 and isoform 2 (PubMed:12785837, PubMed:16091420). Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer (PubMed:15123683). Interacts with SDHA and SDHB (PubMed:15961414). Interacts with ACO2; the interaction is dependent on citrate (By similarity). Interacts with HSPA9 (PubMed:17331979, PubMed:26702583).
Molecular function
Oxidoreductase
More Types Infomation
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- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: WB, FC, IF, IHC
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- Species Reactivity: Human
- Application: WB
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For Research Use Only. Not For Clinical Use.