MRM2
Function
S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA (PubMed:25009282, PubMed:25074936, PubMed:35177605). This activity may require prior 2'-O-methylguanosine modification at position 1370 (Gm1370) by MRM3 (PubMed:35177605). Essential for late-stage assembly of mtLSU required for efficient translation of mitochondrial DNA encoded proteins; methyltransferase activity is not required for this function (PubMed:35177605). Essential for mitochondrial respiratory function (PubMed:35177605).
Involvement in disease
Mitochondrial DNA depletion syndrome 17
MTDPS17
An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family.
Tissue Specificity
Widely expressed, with highest expression in muscle, placenta, and heart.
Cellular localization
- Mitochondrion
Alternative names
FJH1, FTSJ2, MRM2, 16S rRNA (uridine(1369)-2'-O)-methyltransferase, 16S rRNA [Um1369] 2'-O-methyltransferase, Protein ftsJ homolog 2