RARS1

Chr 5

arginyl-tRNA synthetase 1

Also known as: ArgRS, DALRD1, HLD9, RARS

NCBI Gene: 5917 ENSG00000113643 UniProt: P54136

Arginyl-tRNA synthetase catalyzes the aminoacylation of tRNA by arginine, a critical step in protein synthesis that links amino acids with their corresponding nucleotide triplets. Mutations in RARS1 cause hypomyelinating leukodystrophy 9, an autosomal recessive disorder. The pathogenic mechanism appears to be dominant negative, where mutant proteins interfere with normal cellular function.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, hypomyelinating, 9

Clinical highlights

Gene-disease validity (ClinGen)

hypomyelinating leukodystrophy 9 · 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

0.77

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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