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TRMU (NM_001282785) - tRNA mitochondrial 2-thiouridylase

Mitochondrial Trna-Specific 2-Thiouridylase 1 Isoform G

Mutations Visualisation

Protein summary

This is an alternative isoform of TRMU protein. View all 5 isoforms
TRMU: mitochondrial tRNA-specific 2-thiouridylase 1 isoform g
Description:

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].

Strand
+
Chromosome
22
Protein
376 residues
All mutations
87
PTM sites
8
CDS
46,731,661 - 46,752,851
Transcription
46,731,297 - 46,753,237
2.13% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 55687
UniProt
Ensembl