IARS2

Description

The IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene located on chromosome 1.

IARS2 is an aminoacyl-tRNA synthetase that plays a crucial role in protein synthesis by attaching isoleucine to its corresponding tRNA molecule (tRNA(Ile)). This process ensures the accurate translation of genetic information into proteins.

IARS2 is also known as CAGSSS, ILERS.

Associated Diseases

• Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
• Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia