Orphanet: tRNA 5 methylaminomethyl 2 thiouridylate methyltransferase

Search for a gene

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

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (40)

Research activities on this gene

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.