ETFB : electron transfer flavoprotein subunit beta
Description
The ETFB gene provides instructions for making a protein called electron transfer flavoprotein subunit beta. This protein is part of a complex that plays a vital role in the electron transport chain, a series of chemical reactions that generate energy in cells. Specifically, ETFB facilitates the transfer of electrons from fatty acids and amino acids to the electron transport chain, ultimately producing ATP, the cell‘s primary energy source. Deficiencies in ETFB can disrupt this process, leading to severe health consequences.
Associated Diseases
- Multiple acyl-CoA dehydrogenase deficiency (MADD): This is the most common disorder caused by ETFB gene mutations. It is characterized by a buildup of fatty acids in the body, leading to various symptoms including lethargy, seizures, and muscle weakness.
- Glutaric acidemia type II: A rare disorder caused by ETFB gene mutations, characterized by the accumulation of glutaric acid in the body.
- Other metabolic disorders: Mutations in ETFB can also contribute to various other metabolic disorders, affecting energy production and cellular function.
Did you know?
ETFB deficiency is often diagnosed in infancy due to the characteristic accumulation of specific fatty acids in the blood and urine.
