TRMU

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]

Description

TRNA mitochondrial 2-thiouridylase

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (46330875 - 46357340)

Ensembl ID

ENSG00000100416  (ver. 103.38)

Orthologs

Mouse Trmu: ENSMUSG00000022386

UniProt

O75648

neXtProt

NX_O75648

Human splice variants
Mouse splice variants

Protein structure