TRIT1 Chromosome 1
TRNA isopentenyltransferase 1
Upload your DNA to see your personal genotypes for variants in TRIT1.
What This Gene Does
This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Zinc fingers matrin-type
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000043514
Associated Conditions (8)
Macrocephaly
Inborn genetic diseases
Combined oxidative phosphorylation deficiency 35
TRIT1 Deficiency
TRIT1-related disorder
Mitochondrial disease
Epileptic encephalopathy
See cases
Key Variants
RS146838322
Conflicting classifications of pathogenicity
Macrocephaly, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35
Health Risk
RS183302003
Conflicting classifications of pathogenicity
Health Risk
RS199622789
Conflicting classifications of pathogenicity
TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, TRIT1 Deficiency
Health Risk
RS367752391
Conflicting classifications of pathogenicity
TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, TRIT1 Deficiency
Health Risk
RS766087007
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
Health Risk
RS1642122631
Likely pathogenic
TRIT1-related disorder, TRIT1-related disorder
Health Risk
RS2522382789
Likely pathogenic
Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
Health Risk
RS764506732
Likely pathogenic
Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
Health Risk
RS1030596307
Pathogenic
Health Risk
RS2124597984
Pathogenic
Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
Health Risk
RS2522401762
Pathogenic
Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
Health Risk
RS2522431304
Pathogenic
Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146838322 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35 |
| RS183302003 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199622789 | Health Risk | Conflicting classifications of pathogenicity | TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, TRIT1 Deficiency |
| RS367752391 | Health Risk | Conflicting classifications of pathogenicity | TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, TRIT1 Deficiency |
| RS766087007 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS1642122631 | Health Risk | Likely pathogenic | TRIT1-related disorder, TRIT1-related disorder |
| RS2522382789 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS764506732 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS1030596307 | Health Risk | Pathogenic | — |
| RS2124597984 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS2522401762 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS2522431304 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS756728965 | Health Risk | Pathogenic | — |
| RS1047420796 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35 |
| RS1331558743 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS1367142675 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mitochondrial disease, Inborn genetic diseases |
| RS144042123 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases, TRIT1-related disorder |
| RS184469579 | Health Risk | Pathogenic/Likely pathogenic | TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases |
| RS370866302 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 |
| RS536000212 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, See cases, TRIT1 Deficiency |