TARS2

Chr 1

threonyl-tRNA synthetase 2, mitochondrial

Also known as: COXPD21, TARSL1, thrRS

NCBI Gene: 80222 ENSG00000143374 UniProt: Q9BW92

The encoded protein is a mitochondrial aminoacyl-tRNA synthetase that charges tRNA with threonine for mitochondrial protein synthesis. Biallelic mutations cause combined oxidative phosphorylation deficiency 21, an autosomal recessive disorder affecting mitochondrial respiratory chain function. The pathogenic mechanism involves dominant-negative effects that disrupt mitochondrial translation and oxidative phosphorylation.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 21

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

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)

—

P/LP submissions

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P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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