CARS1
Chr 11ARcysteinyl-tRNA synthetase 1
Also known as: CARS, CYSRS, MCDDBH, MDBH, MGC:11246
The protein catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys) as a class 1 aminoacyl-tRNA synthetase essential for protein synthesis. Mutations cause microcephaly, developmental delay, and brittle hair syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variation (LOEUF 0.494), reflecting its essential cellular role.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CARS1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools