TRIT1
Chr 1ARtRNA isopentenyltransferase 1
Also known as: COXPD35, GRO1, IPPT, IPT, IPTase, MOD5, hGRO1
This protein catalyzes the transfer of a dimethylallyl group onto adenine at position 37 of specific cytosolic and mitochondrial tRNAs, forming N6-(dimethylallyl)adenosine (i6A37), which is essential for maintaining proper reading frame during protein translation and for selenoprotein expression. Biallelic mutations cause combined oxidative phosphorylation deficiency 35 through autosomal recessive inheritance. The pathogenic mechanism involves loss of tRNA modification function, leading to impaired mitochondrial protein synthesis and oxidative phosphorylation defects.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRIT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools