MARS2
Involvement in disease
Spastic ataxia 3, autosomal recessive
SPAX3
A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
None
The disease is caused by variants affecting the gene represented in this entry.
Combined oxidative phosphorylation deficiency 25
COXPD25
A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.
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 matrix
Alternative names
Methionyl-tRNA synthetase 2, Mitochondrial methionyl-tRNA synthetase, MtMetRS, MARS2