TRMT10C
Chr 3ARtRNA methyltransferase 10C, mitochondrial RNase P subunit
Also known as: COXPD30, HNYA, MRPP1, RG9MTD1
The protein is a subunit of mitochondrial ribonuclease P that processes the 5' end of mitochondrial tRNAs and confers RNA-binding capacity essential for transcript processing, RNA modification, translation and mitochondrial respiration. Mutations cause combined oxidative phosphorylation deficiency 30 through an autosomal recessive inheritance pattern. The pathogenic mechanism involves loss of function, disrupting mitochondrial tRNA processing and subsequent oxidative phosphorylation.
Moderate evidence — consider for supplementary testing
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
TRMT10C · 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