SDHC

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. Several related pseudogenes are located in different genomic regions. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq]

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa

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).

Biological Process aerobic respirationManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process mitochondrial electron transport, succinate to ubiquinoneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process proton motive force-driven mitochondrial ATP synthesis1 PublicationIC:ComplexPortal
Biological Process tricarboxylic acid cycleManual Assertion Based On ExperimentTAS:UniProtKB

Mitochondrion inner membrane

Paragangliomas 3 (PGL3):
A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.
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.

Mitochondrial matrix: 30-62
Helical: 63-92
Mitochondrial intermembrane: 93-112
Helical: 113-137
Mitochondrial matrix: 138-144
Helical: 145-166
Mitochondrial intermembrane: 167-169