LARS2
Function
Catalyzes the attachment of leucine to its cognate tRNA.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Tissue Specificity
Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.
Cellular localization
- Mitochondrion matrix
Alternative names
KIAA0028, LARS2, Leucyl-tRNA synthetase, LeuRS