SDHC Antibody – Mouse Monoclonal

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. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

SDHC: 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). Defects in SDHC are the cause of paragangliomas type 3 (PGL3). 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); 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. Belongs to the cytochrome b560 family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Energy Metabolism - oxidative phosphorylation; Membrane protein, integral; Carbohydrate Metabolism - citrate (TCA) cycle; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1q23.3

Cellular Component: mitochondrial respiratory chain complex II; mitochondrion; mitochondrial inner membrane; integral to membrane

Molecular Function: electron carrier activity; metal ion binding; heme binding; succinate dehydrogenase activity

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

Disease: Gastrointestinal Stromal Tumor; Paraganglioma And Gastric Stromal Sarcoma; Paragangliomas 3