IARS2
Chr 1ARisoleucyl-tRNA synthetase 2, mitochondrial
Also known as: CAGSSS, ILERS
The protein catalyzes the aminoacylation of tRNA with isoleucine in the mitochondrial matrix, serving as the mitochondrial isoleucine-tRNA synthetase essential for mitochondrial protein synthesis. Biallelic mutations cause an autosomal recessive multisystem disorder characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. The pathogenicity likely results from impaired mitochondrial protein synthesis due to defective aminoacylation of mitochondrial tRNAs.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IARS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools