Entity Details

Primary name MTO1
Entity type gene
Source Source Link

Details

PrimaryID25821
RefseqGeneNG_032856
SymbolMTO1
Namemitochondrial tRNA translation optimization 1
Chromosome6
Location6q13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMTO1_HUMAN

GO terms

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GOName
GO:0002098 tRNA wobble uridine modification
GO:0003723 RNA binding
GO:0005739 mitochondrion
GO:0030488 tRNA methylation
GO:0050660 flavin adenine dinucleotide binding
GO:0070899 mitochondrial tRNA wobble uridine modification

Diseases

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Disease IDSourceNameDescription
614702 OMIMCombined 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. The disease is caused by variants affecting the gene represented in this entry.