LARS1 Chromosome 5
Leucyl-tRNA synthetase 1
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What This Gene Does
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]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000133706
Associated Conditions (7)
Infantile liver failure syndrome 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Ovarian serous cystadenocarcinoma
Gastric cancer
Familial cancer of breast
LARS1-related disorder
Malignant tumor of urinary bladder
Key Variants
RS1363237554
Conflicting classifications of pathogenicity
Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
Health Risk
RS139456270
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Infantile liver failure syndrome 1, Ovarian serous cystadenocarcinoma
Health Risk
RS139960441
Conflicting classifications of pathogenicity
Health Risk
RS148510496
Conflicting classifications of pathogenicity
Health Risk
RS150429680
Conflicting classifications of pathogenicity
Infantile liver failure syndrome 1, LARS1-related disorder, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS151245897
Conflicting classifications of pathogenicity
Health Risk
RS182260391
Conflicting classifications of pathogenicity
Health Risk
RS373129039
Conflicting classifications of pathogenicity
Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
Health Risk
RS377245038
Conflicting classifications of pathogenicity
Health Risk
RS577902897
Conflicting classifications of pathogenicity
Health Risk
RS746121910
Conflicting classifications of pathogenicity
Health Risk
RS762913390
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1363237554 | Health Risk | Conflicting classifications of pathogenicity | Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 |
| RS139456270 | Health Risk | Conflicting classifications of pathogenicity | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Infantile liver failure syndrome 1, Ovarian serous cystadenocarcinoma |
| RS139960441 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148510496 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150429680 | Health Risk | Conflicting classifications of pathogenicity | Infantile liver failure syndrome 1, LARS1-related disorder, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS151245897 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182260391 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373129039 | Health Risk | Conflicting classifications of pathogenicity | Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 |
| RS377245038 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS577902897 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746121910 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762913390 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS765138415 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777624825 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778961690 | Health Risk | Conflicting classifications of pathogenicity | Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 |
| RS863224045 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057523128 | Health Risk | Likely pathogenic | — |
| RS1057523129 | Health Risk | Likely pathogenic | — |
| RS1238073820 | Health Risk | Likely pathogenic | Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 |
| RS1473633538 | Health Risk | Likely pathogenic | — |
| RS1561804096 | Health Risk | Likely pathogenic | — |
| RS2532853423 | Health Risk | Likely pathogenic | — |
| RS2532935153 | Health Risk | Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS749542896 | Health Risk | Likely pathogenic | — |
| RS757195926 | Health Risk | Likely pathogenic | — |
| RS758363727 | Health Risk | Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS79071028 | Health Risk | Likely pathogenic | — |
| RS1002452733 | Health Risk | Pathogenic | — |
| RS200351329 | Health Risk | Pathogenic | — |
| RS201861847 | Health Risk | Pathogenic | Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 |
| RS752441753 | Health Risk | Pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS770802595 | Health Risk | Pathogenic | Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 |
| RS773819736 | Health Risk | Pathogenic | — |
| RS777302019 | Health Risk | Pathogenic | — |
| RS863224047 | Health Risk | Pathogenic | — |
| RS863224048 | Health Risk | Pathogenic | — |
| RS369437593 | Health Risk | Pathogenic/Likely pathogenic | Infantile liver failure syndrome 1, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, LARS1-related disorder |