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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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gptkb:mitochondrial_aspartyl-tRNA_synthetase
AspRS2
aspartate--tRNA ligase, mitochondrial
|
|
gptkbp:associatedWith
|
gptkb:leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation_(LBSL)
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gptkbp:biologicalProcess
|
aminoacyl-tRNA ligase activity
|
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gptkbp:cellularComponent
|
mitochondrial matrix
|
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gptkbp:discoveredIn
|
2007
|
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gptkbp:encodes
|
gptkb:mitochondrial_aspartyl-tRNA_synthetase
|
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gptkbp:Entrez_Gene_ID
|
80123
|
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gptkbp:expressedIn
|
mitochondria
|
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gptkbp:fullName
|
gptkb:aspartyl-tRNA_synthetase_2,_mitochondrial
|
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gptkbp:function
|
catalyzes the attachment of aspartic acid to its cognate tRNA in mitochondria
|
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gptkbp:gene
|
gptkb:DARS2
|
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gptkbp:geneType
|
protein-coding
|
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gptkbp:HGNC_ID
|
HGNC:2666
|
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gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
648
|
|
gptkbp:locatedOnChromosome
|
1
1q25.1
|
|
gptkbp:mutationAssociatedWith
|
causes LBSL
|
|
gptkbp:OMIM
|
610956
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
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gptkbp:orthologIn
|
present in mouse
present in zebrafish
present in yeast
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gptkbp:pathway
|
mitochondrial translation
aminoacyl-tRNA biosynthesis
|
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gptkbp:product
|
Aspartyl-tRNA synthetase, mitochondrial
|
|
gptkbp:significance
|
mutations cause neurological disorders
|
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gptkbp:UniProtID
|
Q86TB3
|
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gptkbp:bfsParent
|
gptkb:mitochondrial_aspartyl-tRNA_synthetase
|
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gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DARS2 gene
|