DISEASES

Disease-gene associations mined from literature

Literature associating GARS1 and distal spinal muscular atrophy 2

GARS1 [ENSP00000373918]

Glycine--tRNA ligase; Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:28675565, PubMed:24898252). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis . ; Belongs to the class-II aminoacyl-tRNA synthetase family.

Synonyms:  GARS1,  GARS1p,  hGARS1,  F8WCK4,  GARS ...

Linkouts:  STRING  Pharos  UniProt  OMIM