Gene: ETFB

Alternate names for this Gene: FP585|MADD

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.41

Description of this Gene: electron transfer flavoprotein subunit beta

Type of Gene: protein-coding

rs104894677 in ETFB gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 7912128 1994 Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.

PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.