Gene SDHC
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Also known as
Succinate Dehydrogenase Complex Subunit C, CybS, PGL3, SDH3Overview
SDHC (Succinate Dehydrogenase Complex Subunit C) encodes one of the integral membrane anchor subunits of the succinate dehydrogenase (SDH) complex, a key enzyme in mitochondrial energy metabolism. The SDH complex, also known as mitochondrial complex II, uniquely participates in both the citric acid cycle and the mitochondrial electron transport chain. SDHC, along with SDHD, anchors the catalytic subunits (SDHA and SDHB) to the inner mitochondrial membrane and helps transfer electrons from succinate oxidation to the ubiquinone pool in the electron transport chain.Germline mutations in SDHC cause hereditary paraganglioma-pheochromocytoma syndrome type 3 (PGL3), an autosomal dominant disorder characterized by the development of paragangliomas, which are typically benign neuroendocrine tumors arising from parasympathetic ganglia in the head and neck region. Compared to SDHB-related tumors, SDHC-associated paragangliomas tend to have a lower rate of malignant transformation and are primarily located in the head and neck. However, affected individuals still require lifelong surveillance for tumor development and may develop pheochromocytomas (adrenal tumors) as well. Genetic testing for SDHC mutations is important for early tumor detection, surgical planning, and family screening in individuals with personal or family history of paragangliomas.