Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:mitochondrial_aspartyl-tRNA_synthetase
|
gptkbp:associatedWith |
gptkb:leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation_(LBSL)
|
gptkbp:encodes |
gptkb:mitochondrial_aspartyl-tRNA_synthetase
|
gptkbp:expressedIn |
mitochondria
|
gptkbp:fullName |
gptkb:aspartyl-tRNA_synthetase_2,_mitochondrial
|
gptkbp:function |
catalyzes the attachment of aspartic acid to its cognate tRNA in mitochondria
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
2672
|
https://www.w3.org/2000/01/rdf-schema#label |
DARS2
|
gptkbp:locatedOnChromosome |
1
1q25.1 |
gptkbp:mutationAssociatedWith |
gptkb:LBSL
|
gptkbp:OMIM |
610956
|
gptkbp:orthologInMouse |
gptkb:Dars2
|
gptkbp:UniProtID |
Q6PI48
|
gptkbp:bfsParent |
gptkb:SIM5
|
gptkbp:bfsLayer |
6
|