IARS1
Function
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.
Involvement in disease
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
GRIDHH
An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Tissue Specificity
Expressed in liver and muscle (at protein level).
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytosol
Alternative names
IARS, IARS1, Isoleucyl-tRNA synthetase, IRS, IleRS