TRMU Chromosome 22
TRNA mitochondrial 2-thiouridylase
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What This Gene Does
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 (6)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Inborn genetic diseases
TRMU-related disorder
Aminoglycoside-induced deafness
Germ cell tumor of testis
Lung cancer
Key Variants
RS1006261196
Conflicting classifications of pathogenicity
Health Risk
RS111608902
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Inborn genetic diseases, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS113846383
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS117710834
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS1294405938
Conflicting classifications of pathogenicity
TRMU-related disorder, TRMU-related disorder
Health Risk
RS138586787
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS139351059
Conflicting classifications of pathogenicity
Health Risk
RS142346622
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS1426898716
Conflicting classifications of pathogenicity
Health Risk
RS144054758
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder, Inborn genetic diseases
Health Risk
RS1440658479
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Health Risk
RS147754663
Conflicting classifications of pathogenicity
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder, Inborn genetic diseases
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2078022380 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS2078453451 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS2147054656 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS2147853237 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS2518131926 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS2518162180 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS2518162686 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS745338284 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS749895492 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS755535065 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS755646665 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS759790041 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness |
| RS762738569 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness |
| RS763926467 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS764622793 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| RS769668643 | Health Risk | Pathogenic/Likely pathogenic | Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness |
| RS774153227 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |