MARS1 encodes methionyl-tRNA synthetase 1 (900 aa). Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Highest expression in Cells Cultured fibroblasts (114.2 TPM) and Brain Cerebellum (111.3 TPM).

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency is associated with mutations in the MARS1 gene on chromosome 12.

MARS1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for MARS1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 12 always present features, 2 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency.

4 publications have been identified in PubMed for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

• Balasubramanian PC (2025). [PMID: 39832044](https://pubmed.ncbi.nlm.nih.gov/39832044/). *Indian journal of pediatrics*. [Case Report / Case Series]

• Marczak H (2025). [PMID: 40365093](https://pubmed.ncbi.nlm.nih.gov/40365093/). *Breathe (Sheffield, England)*. [Review / Meta-Analysis]

• Griese M (2024). [PMID: 39153860](https://pubmed.ncbi.nlm.nih.gov/39153860/). *Thorax*. [Review / Meta-Analysis]

• Borie R (2024). [PMID: 39537246](https://pubmed.ncbi.nlm.nih.gov/39537246/). *European respiratory review : an official journal of the European Respiratory Society*. [Review / Meta-Analysis]