TRMT10C Gene: Mitochondrial tRNA Methyltransferase 10C
Genetic insights into TRMT10C, a key enzyme in mitochondrial tRNA modification, associated with combined oxidative phosphorylation deficiency and related disorders.
Gene Information Card
| Symbol | TRMT10C |
|---|---|
| Full Name | tRNA methyltransferase 10C, mitochondrial |
| Gene Type | protein coding |
| Chromosomal Location | 3q12.3 |
| NCBI Gene ID | 54931 ncbi.nlm.nih.gov/gene/54931 |
| Ensembl ID | ENSG00000144381 |
| UniProt ID | Q7L0Y3 |
| OMIM ID | 615423 |
| HGNC ID | 26041 |
| Aliases | MRPP1, COXPD30, FLJ20479 |
Description
The TRMT10C gene encodes the mitochondrial tRNA methyltransferase 10C, also known as MRPP1. This protein is a component of the mitochondrial RNase P complex, which is essential for the 5' processing of mitochondrial tRNAs. TRMT10C catalyzes the methylation of the 9th nucleotide in mitochondrial tRNAs, a modification critical for tRNA stability and function. Mutations in TRMT10C lead to combined oxidative phosphorylation deficiency type 30, a severe mitochondrial disorder affecting multiple organ systems.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 30 (COXPD30) | Loss-of-function mutations in TRMT10C impair mitochondrial tRNA processing and methylation, leading to defective mitochondrial protein synthesis and reduced oxidative phosphorylation. | ClinVar, OMIM |
| Leigh syndrome (in some cases) | TRMT10C mutations may cause mitochondrial dysfunction resembling Leigh syndrome, with neurological features due to impaired ATP production. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Brain | 6.2 | Low |
| Skeletal Muscle | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 10.1 | Moderate expression |
| HepG2 | 8.5 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.542G>A (p.Arg181His) | Missense | Rare | Impairs protein function, associated with COXPD30 |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of protein expression, severe phenotype |
| c.688C>T (p.Arg230Ter) | Nonsense | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most TRMT10C mutations are loss-of-function, leading to reduced or absent methyltransferase activity, impairing mitochondrial tRNA processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TRMT10C.
Dominant Negative (DN)
No dominant-negative effects have been described; the disease is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • tRNA (guanine-N1-)-methyltransferase activity | • RNA binding |
| • mitochondrial matrix | • mitochondrial tRNA processing |
| • methylation |
Pathways
• Mitochondrial tRNA processing
• Mitochondrial RNA metabolism
Protein Summary
TRMT10C is a 403-amino acid protein localized to the mitochondrial matrix. It forms a complex with TRMT10B and SDR5C1 (MRPP2) to constitute the mitochondrial RNase P, which is responsible for the 5' end cleavage of mitochondrial tRNAs. TRMT10C specifically methylates the N1 position of guanine at position 9 of mitochondrial tRNAs, a modification that stabilizes the tRNA structure. Defects in this protein disrupt mitochondrial translation, leading to respiratory chain deficiencies and clinical manifestations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT10C Knockout HEK293 Cell Line | EDJ-KQ2924 | Human | 54931 | Details Get a Quote |
| TRMT10C Knockout HCT 116 Cell Line | EDJ-KQ24023 | Human | 54931 | Details Get a Quote |
| TRMT10C Knockout HeLa Cell Line | EDJ-KQ24024 | Human | 54931 | Details Get a Quote |
| TRMT10C Knockout A-549 Cell Line | EDJ-KQ64995 | Human | 54931 | Details Get a Quote |
