TRMU tRNA mitochondrial 2-thiouridylase

Gene ID: 55687, updated on 28-Oct-2024
Gene type: protein coding
Also known as: MTO2; MTU1; TRMT; LCAL3; TRMT1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MedGen: C3278664OMIM: 613070GeneReviews: TRMU Deficiency	not available
Aminoglycoside antibacterials response MedGen: CN184091GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial	not available
Aminoglycoside-induced deafness MedGen: C1838854OMIM: 580000GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial, Genetic Hearing Loss Overview	not available
Gentamicin response MedGen: CN184225GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial	not available
Kanamycin response MedGen: CN184547GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial	not available
Streptomycin response MedGen: C1154708GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial	not available
Tobramycin response MedGen: CN184545GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial	not available
Aminoglycoside-induced deafness MedGen: C1838854OMIM: 580000GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial, Genetic Hearing Loss Overview	not available

Genomic context

Location:: 22q13.31

Sequence:: Chromosome: 22; NC_000022.11 (46335714..46357340)

Total number of exons:: 11

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TRMU variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TRMU database
Variation Viewer
Related Variants

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