LARS2
Chr 3ARleucyl-tRNA synthetase 2, mitochondrial
Also known as: HLASA, LEURS, PRLTS4, mtLeuRS
The protein is mitochondrial leucyl-tRNA synthetase, which catalyzes the attachment of leucine to its cognate tRNA for mitochondrial protein synthesis. Biallelic mutations cause autosomal recessive disorders including hydrops with lactic acidosis and sideroblastic anemia, and Perrault syndrome 4 (ovarian dysgenesis with sensorineural hearing loss). Pathogenicity results from impaired mitochondrial protein synthesis leading to mitochondrial dysfunction.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LARS2 · 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