LARS2

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq]

leucyl-tRNA synthetase 2, mitochondrial

Catalyzes the attachment of leucine to its cognate tRNA.

Leucyl-tRNA aminoacylationManual Assertion Based On ExperimentIDA:HGNC
Mitochondrial translationManual Assertion Based On ExperimentIBA:GO_Central
tRNA aminoacylation for protein translationTAS:Reactome

Mitochondrion matrix

Perrault syndrome 4 (PRLTS4):
An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
Hydrops, lactic acidosis, and sideroblastic anemia (HLASA):
A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease.