SDHC
Function
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) (PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity).
Involvement in disease
Pheochromocytoma/paraganglioma syndrome 3
PPGL3
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL3 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Paraganglioma and gastric stromal sarcoma
PGGSS
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate metabolism; tricarboxylic acid cycle.
Sequence Similarities
Belongs to the cytochrome b560 family.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
Alternative names
CYB560, SDH3, SDHC, Integral membrane protein CII-3, Malate dehydrogenase [quinone] cytochrome b560 subunit, QPs-1, Succinate dehydrogenase complex subunit C, Succinate-ubiquinone oxidoreductase cytochrome B large subunit, QPs1, CYBL