Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Friedreich's_ataxia
|
| gptkbp:discoveredBy |
Campuzano et al.
|
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodes |
frataxin protein
|
| gptkbp:fullName |
Frataxin gene
|
| gptkbp:function |
protection against oxidative stress
mitochondrial iron homeostasis |
| https://www.w3.org/2000/01/rdf-schema#label |
FRDA
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
chromosome 9q21.11
|
| gptkbp:mutationAssociatedWith |
gptkb:GAA_trinucleotide_repeat_expansion
reduced frataxin expression |
| gptkbp:OMIM |
606829
|
| gptkbp:orthologIn |
gptkb:mouse
gptkb:yeast gptkb:Drosophila_melanogaster |
| gptkbp:bfsParent |
gptkb:Friedreich's_ataxia
|
| gptkbp:bfsLayer |
6
|