MRM2 Chromosome 7
Mitochondrial rRNA methyltransferase 2
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What This Gene Does
The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"7BS 2'O-ribose DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000122687
Associated Conditions (1)
Mitochondrial DNA depletion syndrome 17
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1584622847 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 17, Mitochondrial DNA depletion syndrome 17 |
| RS749074594 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 17, Mitochondrial DNA depletion syndrome 17 |