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 CRISPR/Cas9 KO Plasmid (h) - sc-401628 from Santa Cruz Biotechnology
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Frataxin HDR Plasmid (h) - sc-401628-HDR from Santa Cruz Biotechnology
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Frataxin Double Nickase Plasmid (h) - sc-401628-NIC from Santa Cruz Biotechnology
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Frataxin Double Nickase Plasmid (h2) - sc-401628-NIC-2 from Santa Cruz Biotechnology
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Frataxin CRISPR Activation Plasmid (h) - sc-401628-ACT from Santa Cruz Biotechnology
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Frataxin CRISPR Activation Plasmid (h2) - sc-401628-ACT-2 from Santa Cruz Biotechnology
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Frataxin Lentiviral Activation Particles (h) - sc-401628-LAC from Santa Cruz Biotechnology
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Frataxin Lentiviral Activation Particles (h2) - sc-401628-LAC-2 from Santa Cruz Biotechnology
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Frataxin siRNA (h) - sc-40580 from Santa Cruz Biotechnology
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Frataxin shRNA Plasmid (h) - sc-40580-SH from Santa Cruz Biotechnology
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Frataxin shRNA (h) Lentiviral Particles - sc-40580-V from Santa Cruz Biotechnology
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Frataxin RNAi - H00002395-R01V from Novus Biologicals
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Frataxin RNAi - H00002395-R06 from Novus Biologicals
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Frataxin RNAi - H00002395-R05 from Novus Biologicals
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MISSION® esiRNA - EHU054361 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN9008 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND9008 from Sigma-Aldrich
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FXN siRNA (Human) - CRH1651 from Cohesion Biosciences
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FXN - MBS826881 from MyBioSource
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shRNA set against Human FXN (NM_181425.2) - SHH297885 from Creative biogene
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Human FXN siRNA - orb262153 from Biorbyt
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FXN shRNA Plasmid (Human) - CHH1651 from Cohesion Biosciences
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FXN miRNA 3'UTR clone - MiUTR3H-08753 from Creative biogene
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FXN miRNA 3'UTR clone - MiUTR4H-TG03673 from Creative biogene
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