SDHAF1

Description

The SDHAF1 gene provides instructions for making a protein that plays a crucial role in cellular respiration, the process by which cells convert food into energy. This protein, known as succinate dehydrogenase assembly factor 1, is essential for the proper assembly and function of complex II, a key enzyme in the electron transport chain. This chain is a series of protein complexes embedded within the mitochondria, the powerhouses of our cells. SDHAF1 facilitates the assembly of complex II, ensuring that electrons are efficiently transferred and energy is produced effectively. Mutations in the SDHAF1 gene can disrupt this intricate process, leading to a variety of health issues.

Associated Diseases

• Leigh syndrome
• Mitochondrial complex II deficiency
• Glutaric aciduria type I
• Hereditary paraganglioma
• Pheochromocytoma

Did you know?

Mutations in SDHAF1 are associated with an increased risk of certain types of cancer, including paraganglioma and pheochromocytoma.