Gene Symbol | FXN |
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Entrez Gene | 2395 |
Alt Symbol | CyaY, FA, FARR, FRDA, X25 |
Species | Human |
Gene Type | protein-coding |
Description | frataxin |
Other Description | Friedreich ataxia protein|frataxin, mitochondrial |
Swissprots | Q15294 O15545 C9JJ89 Q5VZ01 A8MXJ6 O95656 Q16595 |
Accessions | AAA98508 AAA98509 AAB84047 AAD00734 AAD00735 AAD00736 AAD49778 CAA74077 EAW62473 EAW62474 Q16595 AA232366 AI951739 AK308620 BC023633 AAH23633 BC048097 AAH48097 BF058880 HQ447980 ADQ32463 U43747 AAA98510 NM_000144 NP_000135 NM_001161706 NP_001155178 NM_181425 NP_852090 |
Function | Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. {ECO:0000269|PubMed:12785837, ECO:0000269|PubMed:15247478, ECO:0000269|PubMed:15641778, ECO:0000269|PubMed:16239244, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}. |
Subcellular Location | Cytoplasm. Mitochondrion. Note=PubMed:18725397 reports localization exclusively in mitochondria. |
Tissue Specificity | Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. {ECO:0000269|PubMed:17468497}. |
Top Pathways | Porphyrin and chlorophyll metabolism |
Frataxin (H-155) - sc-25820 from Santa Cruz Biotechnology
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Frataxin (C-15) - sc-25108 from Santa Cruz Biotechnology
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Frataxin (N-19) - sc-25106 from Santa Cruz Biotechnology
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Frataxin (V-21) - sc-130757 from Santa Cruz Biotechnology
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Anti-Frataxin antibody - ab175402 from Abcam
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Anti-Frataxin antibody - ab79858 from Abcam
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Anti-Frataxin antibody - ab55021 from Abcam
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Anti-Frataxin antibody [18A5DB1] - ab110328 from Abcam
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Anti-Frataxin antibody [18A5DB1] (Alexa Fluor® 488) - ab156033 from Abcam
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Anti-Frataxin antibody [EPR6107] - ab124680 from Abcam
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Anti-Frataxin antibody - N-terminal - ab156253 from Abcam
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Anti-FXN / Frataxin Antibody - LS-C6889 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (C-Terminus) - LS-C6890 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (C-Terminus) - LS-C6891 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (Internal, clone EPR6107) - LS-C138783 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (aa80-129) - LS-C145220 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody - LS-C331670 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (clone 1C12) - LS-C173723 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (aa36-64) - LS-C157755 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (clone 3C7) - LS-C173766 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (clone 3F3) - LS-C173768 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (aa36-64, AP) - LS-C214399 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (aa36-64, APC) - LS-C214400 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (aa36-64, FITC) - LS-C214401 from LifeSpan Bioscience
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Anti-FXN / Frataxin Antibody (aa36-64, Biotin) - LS-C214402 from LifeSpan Bioscience
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