Gene Symbol | MTO1 |
Entrez Gene ID | 25821 |
Full Name | mitochondrial tRNA translation optimization 1 |
Synonyms | CGI-02,COXPD10 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 10, 614702 (3) |