Gene Symbol | MARS2 |
Entrez Gene ID | 92935 |
Full Name | methionyl-tRNA synthetase 2, mitochondrial |
Synonyms | COXPD25,MetRS,mtMetRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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). [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | Spastic ataxia 3, autosomal recessive, 611390 (3); ?Combined oxidative phosphorylation deficiency 25, 616430 (3) |