Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:X25
gptkb:FRDA MGC111385 MGC111393 |
| gptkbp:associatedWith |
gptkb:Friedreich's_ataxia
|
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodes |
frataxin protein
|
| gptkbp:Entrez_Gene_ID |
2395
ENSG00000165060 |
| gptkbp:expressedIn |
gptkb:nervous_system
heart pancreas |
| gptkbp:fullName |
gptkb:frataxin
|
| gptkbp:function |
iron-sulfur cluster assembly
mitochondrial iron homeostasis |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
4050
|
| https://www.w3.org/2000/01/rdf-schema#label |
FXN
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:length |
210 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
gptkb:GAA_trinucleotide_repeat_expansion
causes Friedreich's ataxia |
| gptkbp:OMIM |
606829
|
| gptkbp:orthologInMouse |
Fxn
|
| gptkbp:orthologInZebrafish |
gptkb:fxn
|
| gptkbp:RefSeq |
NM_000144
|
| gptkbp:subcellularLocation |
mitochondrion
|
| gptkbp:UniProtID |
Q16595
|
| gptkbp:bfsParent |
gptkb:Friedreich's_ataxia
|
| gptkbp:bfsLayer |
6
|