[6] The succinate dehydrogenase (SDH) complex of the mitochondrial respiratory chain is composed of 4 individual subunits.

The protein encoded by the SDHAF1 gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo.

By protecting SDHB from damaging oxidants, SDHAF1 plays a vital role in the assembly and stability of succinate dehydrogenase (SDH).

Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, and cardiomyopathy.

[13][7] This article incorporates text from the United States National Library of Medicine, which is in the public domain.