TRMT10C across dismech

TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit) is named by 1 disorder entry.

Normal function

TRMT10C (MRPP1) is the methyltransferase subunit of the MRPP1-MRPP2 subcomplex and an essential subunit of mitochondrial RNase P. The ai-gene-review layer currently ingested by dismech lists 0 core-function terms for TRMT10C: the pinned ingest predates the upstream review of this gene, which is being completed separately, so this page makes no claim about its GO terms yet.

Disease record

The entry that types TRMT10C as causative is Combined Oxidative Phosphorylation Defect Type 30. Its genetic record is causative and the variant origin is recorded as germline. The entry places the gene on 3 pathophysiology nodes: Biallelic TRMT10C Missense Variants, Impaired Mitochondrial RNase P 5' Processing and MRPP1 Protein Destabilization; the variants are recorded as partial loss of function.

Where the layers meet

The GO processes annotated on the nodes naming TRMT10C number 1 (mitochondrial tRNA 5'-end processing), and the number of GO process terms shared with ai-gene-review by exact identifier is 0, which follows from the ingest gap above rather than from a disagreement.

ClinGen classifies TRMT10C for 1 disease, and the ClinGen disease with no matching dismech entry is mitochondrial disease. That is a broader grouping than the entry's own disease, so the entry carries no ClinGen tier.