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gene: MTO1

id25821
symbolMTO1
organismHomo sapiens
full namemitochondrial tRNA translation optimization 1
summaryThis 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]
variant-disease

NM_133645.3(MTO1):c.1357G>A (p.Ala453Thr) AND Combined oxidative phosphorylation deficiency 10

NM_133645.3(MTO1):c.1993-7T>G AND not specified

NM_133645.3(MTO1):c.230G>A (p.Cys77Tyr) AND not provided

NM_133645.3(MTO1):c.620C>T (p.Thr207Met) AND not specified

NM_133645.3(MTO1):c.96C>T (p.Pro32=) AND not specified

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