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TRMU - tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
- Synonym(s) : FLJ10140, MTO2
- Previous symbols and names : TRMT, tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransf erase
- Type : gene with protein product
- Chromosomal location : 22q13.31
- OMIM: 610230
- HGNC: 25481
- UniProtKB: O75648
- Genatlas: TRMU
- Ensembl: ENSG00000100416
- IUPHAR-DB: -
- Reactome: O75648
- LOVD: TRMU
Diseases list
- Disease-causing germline mutation(s) in Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
ORPHA:217371 
- Disease-causing germline mutation(s) in Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
ORPHA:254864 - Modifying germline mutation in Mitochondrial non-syndromic sensorineural deafness
ORPHA:90641
: AssessedAdditional information
Health care resources for this gene
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Specialised Social Services
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