SDHAF1

SDHAF1 is a gene that provides instructions for making a protein involved in energy production. This protein is necessary for the assembly of an enzyme called succinate dehydrogenase (SDH), which plays a critical role in mitochondria, the energy-producing centers in cells.

Function

The SDHAF1 protein is one of several factors that assist in the assembly of the SDH enzyme. This enzyme is involved in both the Krebs cycle (also known as the citric acid or TCA cycle) and the electron transport chain, which are critical for energy production. In the Krebs cycle, the SDH enzyme helps convert a molecule called succinate to another molecule called fumarate. In the electron transport chain, the SDH enzyme helps transfer electrons to molecules of oxygen, a reaction that produces energy.

Clinical significance

Mutations in the SDHAF1 gene have been associated with a rare condition called mitochondrial complex II deficiency. This condition can affect many parts of the body, including the brain, muscles, heart, liver, and kidneys. Symptoms can range from mild to severe and can appear anytime from infancy to adulthood.

Genetics

The SDHAF1 gene is located on the short (p) arm of chromosome 19 at position 13.3. More precisely, the SDHAF1 gene is located from base pair 17,764,769 to base pair 17,767,879 on chromosome 19.

See also

• Mitochondrial disease
• Succinate dehydrogenase
• Krebs cycle
• Electron transport chain