NARS2

Chr 11AR

asparaginyl-tRNA synthetase 2, mitochondrial

Also known as: DFNB94, SLM5, asnRS

NCBI Gene: 79731 ENSG00000137513 UniProt: Q96I59 OMIM: 612803

The protein catalyzes the ligation of asparagine to tRNA molecules in the mitochondrial matrix, which is essential for mitochondrial protein biosynthesis. Mutations cause combined oxidative phosphorylation deficiency 24 and autosomal recessive deafness through an autosomal recessive inheritance pattern. The pathogenic mechanism appears to be dominant negative, where mutant proteins interfere with normal mitochondrial protein synthesis.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Deafness, autosomal recessive 94MIM #618434

Combined oxidative phosphorylation deficiency 24MIM #616239

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting3 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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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