TRMT10C Chromosome 3
TRNA methyltransferase 10C, mitochondrial RNase P subunit
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What This Gene Does
This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"SPOUT methyltransferase domain containing|Mitochondrial RNase P complex|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
3q12.3
Ensembl
ENSG00000174173
Associated Conditions (4)
Combined oxidative phosphorylation defect type 30
Mitochondrial disease
See cases
TRMT10C-related disorder
Key Variants
RS199730889
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 30, Mitochondrial disease, See cases
Health Risk
RS780421288
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 30, Combined oxidative phosphorylation defect type 30
Health Risk
RS875989831
Pathogenic
Combined oxidative phosphorylation defect type 30, Mitochondrial disease, Combined oxidative phosphorylation defect type 30
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199730889 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 30, Mitochondrial disease, See cases |
| RS780421288 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 30, Combined oxidative phosphorylation defect type 30 |
| RS875989831 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 30, Mitochondrial disease, Combined oxidative phosphorylation defect type 30 |