Succinate dehydrogenase complex assembly factor 1 (SDHAF1)

Succinate dehydrogenase complex assembly factor 1 (SDHAF1) is a small mitochondrial chaperone protein essential for the assembly and stability of succinate dehydrogenase (complex II), which plays a crucial role in both the TCA cycle and the mitochondrial electron transport chain[1][3][2]. SDHAF1 specifically facilitates the maturation of the iron-sulfur subunit (SDHB) of the SDH complex, protecting it from oxidative damage and enabling proper incorporation of iron-sulfur clusters by recruiting the iron-sulfur transfer complex (including HSC20 and ISCU)[1][2][3]. Mutations in the SDHAF1 gene have been associated with mitochondrial complex II deficiency and severe neurodegenerative disorders, most notably infantile leukoencephalopathy and, in rare cases, Leigh syndrome[1][4]. No known drugs directly target SDHAF1, but genetic testing for SDHAF1 mutations serves as a biomarker for certain mitochondrial diseases[1][3].

Other names

SDHAF1LYRM8Succinate dehydrogenase assembly factor 1, mitochondrialLYR motif-containing protein 8SDH assembly factor 1MC2DN2

Not applicable (no current drugs directly target SDHAF1)