EARS2 encodes glutamyl-tRNA synthetase 2, mitochondrial (523 aa). Non-discriminating glutamyl-tRNA synthetase that catalyzes aminoacylation of both mitochondrial tRNA(Glu) and tRNA(Gln) and participates in RNA aminoacylation for mitochondrial protein translation. Highest expression in Cells EBV-transformed lymphocytes (22.1 TPM) and Cells Cultured fibroblasts (20.7 TPM).

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome is associated with mutations in the EARS2 gene on chromosome 16.

EARS2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for EARS2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 3 very common features, 6 common features.

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

No clinical trials have been registered for leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome.

18 publications have been identified in PubMed for leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (6%).

Recent Publications

• Alam MS (2026). [PMID: 41953407](https://pubmed.ncbi.nlm.nih.gov/41953407/). *Qatar Med J*. [Case Report / Case Series]

• Mehta Y (2026). [PMID: 41880024](https://pubmed.ncbi.nlm.nih.gov/41880024/). *Cell Tissue Res*. [Basic Science / Preclinical]

• Jiang H (2026). [PMID: 41915781](https://pubmed.ncbi.nlm.nih.gov/41915781/). *ACS Appl Bio Mater*. [Basic Science / Preclinical]

• McManus MJ (2026). [PMID: 41704780](https://pubmed.ncbi.nlm.nih.gov/41704780/). *iScience*. [Basic Science / Preclinical]

• Treitel R (2025). [PMID: 40344499](https://pubmed.ncbi.nlm.nih.gov/40344499/). *Am J Med Genet A*. [Case Report / Case Series]

• Pervaiz I (2025). [PMID: 39807611](https://pubmed.ncbi.nlm.nih.gov/39807611/). *J Cell Physiol*. [Basic Science / Preclinical]

• Bahar Ister M (2025). [PMID: 40176842](https://pubmed.ncbi.nlm.nih.gov/40176842/). *Mol Syndromol*. [Case Report / Case Series]

• Radder S (2025). [PMID: 41357011](https://pubmed.ncbi.nlm.nih.gov/41357011/). *Cureus*. [Case Report / Case Series]

• Haschke AM (2025). [PMID: 40367733](https://pubmed.ncbi.nlm.nih.gov/40367733/). *Stem Cell Res*. [Case Report / Case Series]

• Sobeh T (2025). [PMID: 40637848](https://pubmed.ncbi.nlm.nih.gov/40637848/). *Neuroradiology*. [Basic Science / Preclinical]