TFB1M

Chr 6

transcription factor B1, mitochondrial

Also known as: CGI-75, CGI75, mtTFB, mtTFB1

NCBI Gene: 51106 ENSG00000029639 UniProt: Q8WVM0

The protein functions as a mitochondrial dimethyltransferase that methylates conserved adenosine residues in 12S rRNA and is required for basal transcription of mitochondrial DNA. Mutations cause combined oxidative phosphorylation deficiency 18, which presents as a mitochondrial disorder with variable features including encephalomyopathy, developmental delay, and hearing loss. The gene follows autosomal recessive inheritance and is extremely intolerant to loss-of-function variants.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.40

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429