DISEASES

Disease-gene associations mined from literature

Literature associating AARS1 and Charcot-Marie-Tooth disease type 2

AARS1 [ENSP00000261772]

Alanine--tRNA ligase, cytoplasmic; 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 editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438). ECO:0000269|PubMed:27622773, ECO:0000269|PubMed:27911835,; Belongs to the class-II aminoacyl-tRNA synthetase family.

Synonyms:  AARS1,  AARS1p,  hAARS1,  AARS,  H3BPK7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM