Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alias |
gptkb:X25
FRDA protein |
| gptkbp:associatedWith |
gptkb:Friedreich's_ataxia
|
| gptkbp:deficiencyCauses |
oxidative stress
mitochondrial dysfunction |
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodedBy |
FXN gene
|
| gptkbp:expressedIn |
gptkb:nervous_system
heart pancreas |
| gptkbp:foundIn |
mitochondrion
|
| gptkbp:function |
iron homeostasis
iron-sulfur cluster assembly |
| gptkbp:gene |
gptkb:FXN
|
| https://www.w3.org/2000/01/rdf-schema#label |
frataxin
|
| gptkbp:length |
210 amino acids
|
| gptkbp:locatedOnChromosome |
9q21.11
|
| gptkbp:mutationAssociatedWith |
neurodegeneration
cardiomyopathy |
| gptkbp:OMIM |
606829
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
gptkb:Saccharomyces_cerevisiae |
| gptkbp:PDB |
1EKG
|
| gptkbp:structure |
alpha-beta sandwich
|
| gptkbp:UniProtID |
Q16595
|
| gptkbp:bfsParent |
gptkb:Friedreich's_ataxia
|
| gptkbp:bfsLayer |
6
|