Succinate Dehydrogenase Complex Subunit B (SDHB) Antibody – Rabbit Polyclonal

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]

SDHB: Iron-sulfur protein (IP) 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). Defects in SDHB are a cause of susceptibility to pheochromocytoma (PCC). A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. Defects in SDHB are the cause of paragangliomas type 4 (PGL4). 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 SDHB are a cause of paraganglioma and gastric stromal sarcoma (PGGSS); also called 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. Defects in SDHB are a cause of Cowden-like syndrome (CWDLS). Cowden-like syndrome is a cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus. Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family.

Protein type: Carbohydrate Metabolism - citrate (TCA) cycle; EC 1.3.5.1; Energy Metabolism - oxidative phosphorylation; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 1p36.13

Cellular Component: mitochondrial inner membrane; mitochondrial membrane; mitochondrial respiratory chain complex II; mitochondrion; nucleoplasm; plasma membrane

Molecular Function: 2 iron, 2 sulfur cluster binding; 3 iron, 4 sulfur cluster binding; 4 iron, 4 sulfur cluster binding; electron transfer activity; metal ion binding; protein binding; succinate dehydrogenase (ubiquinone) activity; ubiquinone binding

Biological Process: aerobic respiration; succinate metabolic process; tricarboxylic acid cycle

Disease: Cowden Syndrome 2; Gastrointestinal Stromal Tumor; Paraganglioma And Gastric Stromal Sarcoma; Paragangliomas 4; Pheochromocytoma