TFB2M

Chr 1

transcription factor B2, mitochondrial

Also known as: Hkp1, h-mtTFB, h-mtTFB2, hTFB2M, mtTFB2

NCBI Gene: 64216 ENSG00000162851 UniProt: Q9H5Q4 OMIM: 607055

TFB2M encodes a mitochondrial rRNA methyltransferase that is an essential component of the mitochondrial transcription initiation complex, required for transcription of mitochondrial DNA. Mutations cause combined oxidative phosphorylation deficiency, an autosomal recessive mitochondrial disorder presenting with early-onset encephalomyopathy, developmental delay, and respiratory chain dysfunction. The gene shows high evolutionary constraint, reflecting its critical role in mitochondrial function.

OMIM ResearchSummary from RefSeq, UniProt

Enables mitochondrial transcription factor activity. Involved in transcription initiation at mitochondrial promoter. Located in mitochondrial nucleoid. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.95

LOEUF

Mechanism· predicted