YARS2

Chr 12AR

tyrosyl-tRNA synthetase 2

Also known as: CGI-04, MLASA2, MT-TYRRS, TYRRS

NCBI Gene: 51067 ENSG00000139131 UniProt: Q9Y2Z4 OMIM: 610957

The protein encoded by this gene is a mitochondrial aminoacyl-tRNA synthetase that catalyzes the attachment of tyrosine to tRNA(Tyr), essential for mitochondrial protein synthesis. Mutations cause myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2), inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired mitochondrial translation due to defective tyrosyl-tRNA synthetase function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Myopathy, lactic acidosis, and sideroblastic anemia 2MIM #613561

UniProtMyopathy with lactic acidosis and sideroblastic anemia 2

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.26

LOEUF

LOF

Mechanism· G2P