Gene Symbol | SDHB |
Entrez Gene ID | 6390 |
Full Name | succinate dehydrogenase complex iron sulfur subunit B |
Synonyms | CWS2,IP,PGL4,SDH,SDH1,SDH2,SDHIP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Paragangliomas 4, 115310 (3); Pheochromocytoma, 171300 (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Cowden syndrome 2, 612359 (3); Gastrointestinal stromal tumor, 606764 (3) |