SDHB : succinate dehydrogenase complex iron sulfur subunit B
Description
The SDHB (succinate dehydrogenase complex iron sulfur subunit B) is a protein-coding gene located on chromosome 1.
The SDHB gene provides instructions for creating one of the four subunits of the succinate dehydrogenase (SDH) enzyme, a critical component of mitochondria, the energy-producing structures within cells. The SDH enzyme links two essential pathways in energy conversion: the citric acid cycle and oxidative phosphorylation. SDHB plays a vital role in the citric acid cycle by converting succinate to fumarate, releasing electrons that are transferred to the oxidative phosphorylation pathway. These electrons contribute to the creation of an electrical charge that powers the production of ATP, the cell's primary energy source. Succinate acts as an oxygen sensor in the cell, activating specific pathways to promote cell growth in low-oxygen environments. Importantly, the SDHB gene functions as a tumor suppressor, preventing uncontrolled cell growth and division.
SDHB is also known as CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP.
Associated Diseases
- Paragangliomas 4
- Gastrointestinal stromal tumor
- Carney-Stratakis syndrome
- Isolated succinate-CoQ reductase deficiency
- Sporadic pheochromocytoma/secreting paraganglioma
- Hereditary pheochromocytoma-paraganglioma
- Cowden syndrome
- Mitochondrial complex II deficiency, nuclear type 4
- Hereditary paraganglioma-pheochromocytoma
- Nonsyndromic paraganglioma
