RARS2
Function
Catalyzes the attachment of arginine to tRNA(Arg) in a two-step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg).
Involvement in disease
Pontocerebellar hypoplasia 6
PCH6
A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.
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.
Cellular localization
- Mitochondrion membrane
Alternative names
RARSL, RARS2, Arginyl-tRNA synthetase, ArgRS