DISEASES

Disease-gene associations mined from literature

Literature associating IARS1 and syndromic X-linked intellectual disability Lubs type

IARS1 [ENSP00000364794]

Isoleucine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.

Synonyms:  IARS1,  IARS1p,  hIARS1,  A0A0A0MSX9,  IARS ...

Linkouts:  STRING  Pharos  UniProt  OMIM