LARS1

Chr 5AR

leucyl-tRNA synthetase 1

Also known as: HSPC192, ILFS1, LARS, LEURS, LEUS, LFIS, LRS, PIG44

NCBI Gene: 51520 ENSG00000133706 UniProt: Q9P2J5 OMIM: 151350

This cytosolic enzyme catalyzes the ATP-dependent attachment of leucine to its cognate tRNA, a critical step in protein synthesis. Mutations cause infantile liver failure syndrome 1, an autosomal recessive disorder with early onset hepatic dysfunction. The gene is highly constrained against loss-of-function variants (LOEUF 0.526), indicating intolerance to disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…