Succinate Dehydrogenase 2, S. cerevisiae, homolog of
Succinate dehydrogenase complex subunit B iron sulfur
Succinate Dehydrogenase Complex Subunit B Iron Sulfur Protein
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Succinate dehydrogenase iron sulfur protein
功能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).
疾病相关Defects in SDHB are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. 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 hereditary paragangliomas type 4 (PGL4) [MIM:115310]; also known as familial non-chromaffin paragangliomas type 4. Paragangliomas refer to rare and mostly benign tumors that arise from any component of the neuroendocrine system. PGL4 is characterized by the development of mostly benign, highly vascular, slow growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. Defects in SDHB are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; 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) [MIM:612359]. Cowden-like syndrome is a cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus.
序列相似性Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family. Contains 1 2Fe-2S ferredoxin-type domain. Contains 1 4Fe-4S ferredoxin-type domain.