EPRS1

Chr 1AR

glutamyl-prolyl-tRNA synthetase 1

Also known as: EARS, EPRS, GLUPRORS, HLD15, PARS, PIG32, QARS, QPRS

NCBI Gene: 2058 ENSG00000136628 UniProt: P07814 OMIM: 138295

The protein encoded by EPRS1 is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species in the cytoplasm. Mutations cause hypomyelinating leukodystrophy 15 through autosomal recessive inheritance. The pathogenic mechanism likely involves disrupted protein synthesis due to impaired tRNA charging with these essential amino acids.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leukodystrophy, hypomyelinating, 15MIM #617951

Clinical highlights

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

—

P/LP missense

0.51

LOEUF

LOF

Mechanism· G2P