Succinate dehydrogenase complex assembly factor 2 (SDHAF2)

Succinate dehydrogenase complex assembly factor 2 (SDHAF2) is a mitochondrial protein essential for the assembly and functional maturation of complex II (succinate dehydrogenase) in the respiratory chain. SDHAF2 mediates the covalent incorporation of the cofactor flavin adenine dinucleotide (FAD) into the SDHA subunit, a critical step for the enzyme’s catalytic activity[1][2][3][4]. SDHAF2 acts as a tumor suppressor: loss-of-function mutations lead to impaired succinate dehydrogenase activity, succinate accumulation, and abnormal stabilization of hypoxia-inducible factor (HIF), promoting tumorigenesis, particularly hereditary paraganglioma and pheochromocytoma syndrome[1][3][4]. The gene is located on chromosome 11q12.2 and encodes a small, highly conserved protein consisting of 65 amino acids, organized as a five-helix bundle that interacts directly with complex II subunits to ensure proper enzyme assembly and function[1][3][4].

Other names

SDHAF2SDH5PGL2C11orf79FLJ20487hSDH5succinate dehydrogenase assembly factor 2, mitochondrialSDH assembly factor 2succinate dehydrogenase subunit 5, mitochondrialSDHF2_HUMANPPGL2