MTO1 gene

mitochondrial tRNA translation optimization 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 10

From UniProt:

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. [MIM:614702]

Cytogenetic Location: 6q13, which is the long (q) arm of chromosome 6 at position 13

Molecular Location: base pairs 73,461,727 to 73,501,456 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q13, which is the long (q) arm of chromosome 6 at position 13
  • CGI-02
  • COXPD10