IARS2
Function
Aminoacyl-tRNA synthetase that catalyzes the specific attachment of isoleucine to its cognate tRNA (tRNA(Ile)).
Involvement in disease
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
CAGSSS
An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Cellular localization
- Mitochondrion matrix
Alternative names
Isoleucyl-tRNA synthetase, IleRS, IARS2