full name
alanyl-tRNA synthetase 2, mitochondrial

synonyms
AARSL, COXPD8, MT-ALARS, MTALARS, AARS2, ENSG00000124608

HGNC
HGNC:21022

Entrez Gene
Gene:57505

ENSEMBL
ENSG00000124608

location
chr: 6
start: 44266463
stop: 44281094
strand: -

OMIM
OMIM:612035: AARS2 (Autosomal recessive inheritance)
OMIM:614096: Combined oxidative phosphorylation deficiency 8
OMIM:615889: Leukoencephalopathy, progressive, with ovarian failure

transcripts
ENST00000244571.4

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]