full name
alanyl-tRNA synthetase

synonyms
CMT2N, AARS, ENSG00000090861

HGNC
HGNC:20

Entrez Gene
Gene:16

ENSEMBL
ENSG00000090861

location
chr: 16
start: 70286198
stop: 70323452
strand: -

OMIM
OMIM:601065: AARS (Autosomal dominant inheritance)
OMIM:613287: Charcot-Marie-Tooth disease, axonal, type 2N
OMIM:616339: Epileptic encephalopathy, early infantile, 29

transcripts
NM_001605.2

pathways
Aminoacyl-tRNA biosynthesis [NCBI:83030] [KEGG:hsa00970] [PUBMED:15314242] [PUBMED:18252769]
Cytosolic tRNA aminoacylation [NCBI:1269710] [REACTOME:R-HSA-379716] [PUBMED:16169847] [PUBMED:14500886] [PUBMED:9878398]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
tRNA Aminoacylation [NCBI:1269709] [REACTOME:R-HSA-379724] [PUBMED:16125937] [PUBMED:5324173] [PUBMED:18682559] [PUBMED:764868] [PUBMED:1894595] [PUBMED:5324172] [PUBMED:18767960] [PUBMED:182209]