Aliases for TRMU Gene
External Ids for TRMU Gene
Previous HGNC Symbols for TRMU Gene
Previous GeneCards Identifiers for TRMU Gene
This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GeneCards Summary for TRMU Gene
TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase) is a Protein Coding gene. Diseases associated with TRMU include liver failure acute infantile and acute infantile liver failure due to synthesis defect of mtdna-encoded proteins. Among its related pathways are RNA transport and Sulfur relay system. GO annotations related to this gene include tRNA binding and tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity.
UniProtKB/Swiss-Prot for TRMU Gene
Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.