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 |
Recombinant Frataxin (human) - ab110353 from Abcam
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Human Frataxin full length protein - ab95502 from Abcam
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Human Frataxin peptide - ab48280 from Abcam
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Recombinant Frataxin (mouse) - ab195175 from Abcam
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FXN / Frataxin Antibody Blocking Peptide - LS-E8230 from LifeSpan Bioscience
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FXN / Frataxin Antibody Blocking Peptide - LS-E8229 from LifeSpan Bioscience
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FXN / Frataxin Antibody Blocking Peptide - LS-E18435 from LifeSpan Bioscience
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FXN / Frataxin Antibody Blocking Peptide - LS-E17360 from LifeSpan Bioscience
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Recombinant Human Frataxin Protein - H00002395-P01 from Novus Biologicals
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Recombinant Human Frataxin Protein - H00002395-Q01 from Novus Biologicals
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Recombinant Human Frataxin Protein - NBP1-30312 from Novus Biologicals
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Frataxin Peptide - P2054 from Novus Biologicals
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Frataxin Peptide - P2055 from Novus Biologicals
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FXN-Antibody-Center-Blocking-Peptide - BP6409c from Abgent, a WuXi AppTec company
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FXN-Antibody-C-term-Blocking-Peptide - BP6409b from Abgent, a WuXi AppTec company
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Frataxin Protein (OPPA01952) - OPPA01952 from Aviva Systems Biology
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Human Frataxin protein - orb81126 from Biorbyt
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Frataxin protein (His tag) - 80R-1235 from Fitzgerald
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Fxn Blocking Peptide - 33R-9164 from Fitzgerald
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Frataxin (FXN) (42-210, His-tag) - AR09331PU-L from Acris Antibodies
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Frataxin (FXN) (42-210, His-tag) - AR09331PU-N from Acris Antibodies
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Frataxin (FXN) - H00002395-P01-10 from Acris Antibodies
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Frataxin (FXN) - H00002395-P01-25 from Acris Antibodies
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Frataxin (FXN) - H00002395-Q01-10 from Acris Antibodies
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Frataxin (FXN) - H00002395-Q01-25 from Acris Antibodies
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