RARS2

Chr 6

arginyl-tRNA synthetase 2, mitochondrial

Also known as: ArgRS, DALRD2, PCH6, PRO1992, RARSL

NCBI Gene: 57038 ENSG00000146282 UniProt: Q5T160

The encoded protein localizes to mitochondria and catalyzes the transfer of L-arginine to its cognate tRNA, which is essential for translation of mitochondrially-encoded proteins. Mutations cause pontocerebellar hypoplasia type 6 (PCH6), inherited in an autosomal recessive pattern. The pathogenic mechanism involves loss of function, disrupting mitochondrial protein synthesis.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPontocerebellar hypoplasia 6

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)

—

P/LP submissions

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P/LP missense

0.92

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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