MARS2

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3).

Full Name

methionyl-tRNA synthetase 2, mitochondrial

Biological Process

Methionyl-tRNA aminoacylation Source: UniProtKB
tRNA aminoacylation for protein translation Source: Reactome

Cellular Location

Mitochondrion
Mitochondrion matrix

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.
Combined oxidative phosphorylation deficiency 25 (COXPD25):
A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.