ETFDH

electron transfer flavoprotein dehydrogenase

The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein dehydrogenase is involved in the process by which fats and proteins are broken down to produce energy.

Some mutations in the ETFDH gene prevent the production of the electron transfer flavoprotein dehydrogenase enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

Cytogenetic Location: 4q32-q35, which is the long (q) arm of chromosome 4 between positions 32 and 35

Molecular Location: base pairs 158,672,101 to 158,708,713 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q32-q35, which is the long (q) arm of chromosome 4 between positions 32 and 35
  • electron transfer flavoprotein-Q oxidoreductases
  • electron transfer flavoprotein ubiquinone oxidoreductase
  • electron-transferring-flavoprotein dehydrogenase
  • ETF dehydrogenase
  • ETF-ubiquinone oxidoreductase
  • ETFD_HUMAN
  • ETFQO