| Gene Symbol |
FXN
|
| 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
|