| Gene Information | |
|---|---|
| Gene Name | FRDA |
| Organism | Homo sapiens (Human) |
| Gene Length | 210 |
| Protein Names | Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: Frataxin intermediate form (i-FXN); Frataxin(56-210) (m56-FXN); Frataxin(78-210) (d-FXN) (m78-FXN); Frataxin mature form (Frataxin(81-210)) (m81-FXN); Extramitochondrial frataxin] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q16595 |
| Gene Card | FXN |
| Uniprot ID | Q16595 |
| Pfam | PF01491 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. {ECO:0000269|PubMed:17468497}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 1EKG (X-ray 1.80A ) 1LY7 (NMR - ) 3S4M (X-ray 1.30A ) 3S5D (X-ray 1.50A ) 3S5E (X-ray 1.31A ) 3S5F (X-ray 1.50A ) 3T3J (X-ray 1.70A ) 3T3K (X-ray 1.24A ) 3T3L (X-ray 1.15A ) 3T3T (X-ray 1.38A ) 3T3X (X-ray 1.57A ) 5KZ5 (EM 14.30A ) 6NZU (EM 3.20A ) |
| DBSNP | rs104894105 rs142157346 rs104894107 rs104894106 rs138471431 rs138034837 rs139616452 rs144104124 rs1052195 |
| Subcellular location [CC] | [Frataxin mature form]: Mitochondrion {ECO:0000269|PubMed:15581888, ECO:0000269|PubMed:16091420, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:18725397, ECO:0000269|PubMed:20053667, ECO:0000269|PubMed:21298097, ECO:0000269|PubMed:9241270, ECO:0000269|PubMed:9302253}.; [Extramitochondrial frataxin]: Cytoplasm, cytosol {ECO:0000269|PubMed:16091420, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}. |
| Mouse PG classification | NA |
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