ETFBKMT

Chr 12

electron transfer flavoprotein subunit beta lysine methyltransferase

Also known as: C12orf72, ETFB-KMT, METTL20

NCBI Gene: 254013 ENSG00000139160 UniProt: Q8IXQ9 OMIM: 615256

The protein is a mitochondrial protein-lysine methyltransferase that trimethylates the electron transfer flavoprotein ETFB, thereby negatively regulating fatty acid beta-oxidation. Mutations cause multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, which presents with metabolic acidosis, hypoglycemia, and characteristic organic aciduria. The condition follows autosomal recessive inheritance and primarily affects energy metabolism.

OMIM ResearchSummary from RefSeq, UniProt

Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase. Located in mitochondrial matrix. Part of protein-containing complex. [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

1.76

LOEUF

Mechanism· predicted