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MGP002799

UniProt Annotations

Entry Information
Gene Namesuccinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
Protein EntryC560_HUMAN
UniProt IDQ99643
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q99643-1; Sequence=Displayed; Name=2; IsoId=Q99643-2; Sequence=VSP_041383; Name=3; Synonyms=CII-3b; IsoId=Q99643-3; Sequence=VSP_041382; Name=4; IsoId=Q99643-4; Sequence=VSP_041382, VSP_041383; Name=5; IsoId=Q99643-5; Sequence=VSP_041381;
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250}; Note=The heme is bound between the two transmembrane subunits SDHC and SDHD. {ECO:0000250};
DiseaseParaganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: 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. {ECO:0000269|PubMed:17804857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseParagangliomas 3 (PGL3) [MIM:605373]: 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. {ECO:0000269|PubMed:11062460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMembrane-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).
PathwayCarbohydrate metabolism; tricarboxylic acid cycle.
SimilarityBelongs to the cytochrome b560 family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane; Multi-pass membrane protein.
SubunitComponent 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.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SDHCID389.html";
Web ResourceName=TCA Cycle Gene Mutation Database; URL="http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHC";
Web ResourceName=Wikipedia; Note=SDHC entry; URL="http://en.wikipedia.org/wiki/SDHC_%28gene%29";
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