Aliases for MTO1 Gene
External Ids for MTO1 Gene
Previous GeneCards Identifiers for MTO1 Gene
This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTO1 Gene
MTO1 (Mitochondrial TRNA Translation Optimization 1) is a Protein Coding gene. Diseases associated with MTO1 include combined oxidative phosphorylation deficiency 10 and mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency. GO annotations related to this gene include flavin adenine dinucleotide binding.
UniProtKB/Swiss-Prot for MTO1 Gene
Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.