IARS1
Description
The IARS1 (isoleucyl-tRNA synthetase 1) is a protein-coding gene located on chromosome 9.
IARS1 catalyzes the attachment of isoleucine to its corresponding tRNA molecule in a two-step process. First, isoleucine is activated by ATP to form isoleucine-AMP. Then, this activated isoleucine is transferred to the acceptor end of the tRNA molecule.
IARS1 is also known as GRIDHH, IARS, ILERS, ILRS, IRS, PRO0785.
Associated Diseases
- Growth delay-intellectual disability-hepatopathy syndrome
- Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
