Succinate-ubiquinone oxidoreductase cytochrome B large subunit
Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
Defects in SDHC are the cause of hereditary paragangliomas type 3 (PGL3) [MIM:605373]; also known as autosomal dominant non-chromaffin paragangliomas type 3. Non-chromaffin paragangliomas are usually benign, neural crest derived tumors of parasympathetic ganglia. Defects in SDHC are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also known as Carney-Stratakis syndrome. Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.