ETFB

Chr 19AR

electron transfer flavoprotein subunit beta

Also known as: FP585, MADD

NCBI Gene: 2109 ENSG00000105379 UniProt: P38117 OMIM: 130410

The electron transfer flavoprotein beta subunit accepts electrons from multiple mitochondrial dehydrogenases involved in fatty acid oxidation and amino acid metabolism, then transfers them to the main respiratory chain. Mutations cause glutaric acidemia type IIB, an autosomal recessive disorder affecting mitochondrial energy metabolism. The gene shows low constraint to loss-of-function variation (pLI 0.017), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Glutaric acidemia IIBMIM #231680

UniProtGlutaric aciduria 2B

Clinical highlights

Gene-disease validity (ClinGen)

multiple acyl-CoA dehydrogenase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ETFB