Gene Symbol | LARS1 |
Entrez Gene ID | 51520 |
Full Name | leucyl-tRNA synthetase |
Synonyms | HSPC192,ILFS1,LARS1,LEURS,LEUS,LFIS,LRS,PIG44,RNTLS,hr025Cl |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2015]. |
Disorder MIM: | |
Disorder Html: | ?Infantile liver failure syndrome 1, 615438 (3) |