Rabbit anti-Human TFB1M Polyclonal Antibody

Uniprot Id

Q8WVM0

Target Species

Human

Target Name

TFB1M

Target Full Name

Dimethyladenosine transferase 1, mitochondrial

Target Function

S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity.

Target Involvement

Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA.

Target Subcellular Location

Mitochondrion.

Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, rRNA adenine N(6)-methyltransferase family, KsgA subfamily

Target Tissue Specificity

Ubiquitously expressed.

Target Synonyms

N'-adenosyl(rRNA) dimethyltransferase 1; CGI75; Dimethyladenosine transferase 1; mitochondrial; h-mtTFB; h-mtTFB1; hmtTFB; hmtTFB1; hTFB1M; Mitochondrial 12S rRNA dimethylase 1; Mitochondrial dimethyladenosine transferase 1; Mitochondrial transcription factor B1; mtTFB1; S-adenosylmethionine-6-N'; Tfb1m; TFB1M_HUMAN; Transcription factor B1 mitochondrial

Target Background

The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).