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.
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).
Subunit:
Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.
Subcellular Location:
Mitochondrion inner membrane.
DISEASE:
Defects in SDHC are the cause of paragangliomas type 3 (PGL3) [MIM:605373]. A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas are most commonly located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.
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.
Similarity:
Belongs to the cytochrome b560 family.
SWISS:
Q99643
Gene ID:
6391
Database links:
Entrez Gene: 6391 Human
Entrez Gene: 66052 Mouse
Entrez Gene: 289217 Rat
Omim: 602413 Human
SwissProt: P35720 Cow
SwissProt: Q99643 Human
SwissProt: Q9CZB0 Mouse
SwissProt: D0VWV4 Pig
Unigene: 444472 Human
Unigene: 198138 Mouse
Unigene: 1698 Rat
Involvement in disease: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) ; 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.
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