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CAGSSS
Chr 1ARisoleucyl-tRNA synthetase 2, mitochondrial
Also known as: CAGSSS, ILERS
The mitochondrial isoleucine-tRNA synthetase catalyzes the aminoacylation of tRNA by isoleucine within mitochondria, essential for mitochondrial protein synthesis. Autosomal recessive mutations cause a multisystem disorder characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This condition affects multiple organ systems reflecting the widespread cellular dependence on mitochondrial function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CAGSSS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAGSSS · 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
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Links to major genomics databases and tools