Gene: LARS1

Alternate names for this Gene: HSPC192|ILFS1|LARS|LEURS|LEUS|LFIS|LRS|PIG44|RNTLS|hr025Cl

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: leucyl-tRNA synthetase 1

Type of Gene: protein-coding

rs2962508 in LARS1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs201861847 in LARS1 gene and INFANTILE LIVER FAILURE SYNDROME 1 PMID 22607940 2012 Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

rs13153675 in LARS1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.