Dimethyladenosine transferase 1, mitochondrial (TFB1M)

Dimethyladenosine transferase 1, mitochondrial (TFB1M) is a mitochondrial methyltransferase essential for mitochondrial gene expression. It catalyzes the dimethylation of two adjacent adenosine residues in the loop of helix 45 at the 3′ end of mitochondrial 12S rRNA, using S-adenosylmethionine as a methyl donor. This rRNA modification is highly conserved and crucial for the biogenesis and stability of the mitochondrial small ribosomal subunit, thereby facilitating mitochondrial protein synthesis. TFB1M has been implicated in basal mitochondrial transcription in vitro, though its main role is as a methyltransferase; its close paralog TFB2M serves as the primary mitochondrial transcription factor. Mutations or polymorphisms in TFB1M are associated with increased risk of maternally inherited deafness, aminoglycoside antibiotic-induced ototoxicity, and potentially type II diabetes, underlining its importance in mitochondrial health and disease.

Other names

Transcription factor B1, mitochondrialCGI-75h-mtTFBh-mtTFB1hTFB1MmtTFB1mtTFBmitochondrial 12S rRNA dimethylase 1S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1homolog of yeast mitochondrial transcription factor B

Methylation of mitochondrial 12S rRNA, a necessary modification for mitochondrial protein synthesis and ribosome assembly.