LEPID
Chr 16ARlysyl-tRNA synthetase 1
Also known as: CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID
Lysyl-tRNA synthetase is a cytoplasmic enzyme that charges tRNAs with lysine during protein synthesis. Mutations cause autosomal recessive progressive infantile-onset leukoencephalopathy with or without deafness, affecting the white matter of the brain and potentially hearing from early infancy.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LEPID?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
LEPID · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools