AARS 16:70286198-70323446

Reverse strand gene: alanyl-tRNA synthetase 1

Also known as: AARS1, AlaRS, CMT2N, ENSG00000090861

Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (PubMed:27622773, PubMed:27911835, PubMed:28493438). Also edits incorrectly charged tRNA(Ala) via its … Source: UniProt

DECIPHER holds 4 sequence variants in this gene, in 4 open-access patients