Gene Symbol | TFB1M |
Entrez Gene ID | 51106 |
Full Name | transcription factor B1, mitochondrial |
Synonyms | CGI-75,CGI75,mtTFB,mtTFB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |