MTO1

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.

Full Name

MITOCHONDRIAL TRNA TRANSLATION OPTIMIZATION 1

Function

Involved in the 5-carboxymethylaminomethyl modification (mnm5s2U34) of the wobble uridine base in mitochondrial tRNAs.

Biological Process

Mitochondrial tRNA wobble uridine modification Source: GO_Central
tRNA methylation Source: GO_Central
tRNA wobble uridine modification Source: GO_Central

Cellular Location

Mitochondrion

Involvement in disease

Combined oxidative phosphorylation deficiency 10 (COXPD10):
An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases.