Succinate Dehydrogenase Complex Assembly Factor 1 (SDHAF1)

SDHAF1 resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy .The deduced 115-amino acid protein has an N-terminal mitochondrial targeting sequence and an LYR motif characteristic of proteins involved in Fe-S metabolism. Northern blot analysis detected SDHAF1 in all tissues examined. Epitope-tagged SDHAF1 localized to mitochondria in transfected COS-7 and HeLa cells. Western blot analysis and subcellular fractionation suggested that SDHAF1 resides in the mitochondrial matrix and that the mitochondrial targeting signal is not removed following import into mitochondria.