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 deafness, mitochondrial, modifier of and liver failure, transient infantile. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include methyltransferase activity and tRNA binding.
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.