SDHC Antibody – Mouse Monoclonal

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

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