full name
aspartyl-tRNA synthetase 2, mitochondrial

synonyms
ASPRS, LBSL, MT-ASPRS, RP3-383J4.2, DARS2, ENSG00000117593

HGNC
HGNC:25538

Entrez Gene
Gene:55157

ENSEMBL
ENSG00000117593

location
chr: 1
start: 173793719
stop: 173827682
strand: +

OMIM
OMIM:610956: DARS2 (Autosomal recessive inheritance)
OMIM:611105: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

transcripts
NM_018122.4

pathways
Aminoacyl-tRNA biosynthesis [NCBI:83030] [KEGG:hsa00970] [PUBMED:15314242] [PUBMED:18252769]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Mitochondrial tRNA aminoacylation [NCBI:1269711] [REACTOME:R-HSA-379726] [PUBMED:11121736]
tRNA Aminoacylation [NCBI:1269709] [REACTOME:R-HSA-379724] [PUBMED:16125937] [PUBMED:5324173] [PUBMED:18682559] [PUBMED:764868] [PUBMED:1894595] [PUBMED:5324172] [PUBMED:18767960] [PUBMED:182209]