SDHAF1

SDHAF1, also known as Succinate Dehydrogenase Complex Assembly Factor 1 and by other names such as LYR motif containing 8, LYR motif-containing protein 8, LYRM8, and mitochondrial SDH assembly factor 1, is a protein located in the mitochondria. This protein is encoded by the SDHAF1 gene and plays a critical role in the assembly of the succinate dehydrogenase (SDH) complex, although it does not physically bind to the complex in vivo. The mechanism of action of SDHAF1 involves promoting the maturation of the iron-sulfur protein subunit SDHB within the SDH complex, protecting it from the harmful effects of oxidants.

SDHAF1 regulates the assembly of the SDH complex, which is a key component of the mitochondrial respiratory chain. The SDH complex is involved in both the tricarboxylic acid (TCA) cycle and the electron transport chain, where it catalyzes the oxidation of succinate to fumarate while reducing ubiquinone to ubiquinol. Mutations in the SDHAF1 gene have been linked to Succinate Dehydrogenase Deficient Infantile Leukoencephalopathy, a rare inherited metabolic disorder primarily affecting the central nervous system. Therefore, SDHAF1 is an important molecular target in mitochondrial biology and the study of related diseases.