TFB1M gene

transcription factor B1, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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).[provided by RefSeq, Aug 2010]

From UniProt:

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.

From UniProt:

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

Cytogenetic Location: 6q25.3, which is the long (q) arm of chromosome 6 at position 25.3

Molecular Location: base pairs 155,229,990 to 155,314,497 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q25.3, which is the long (q) arm of chromosome 6 at position 25.3
  • CGI-75
  • CGI75
  • mtTFB
  • mtTFB1