succinate dehydrogenase
SDH, mitochondrial complex II, succinate-ubiquinone oxiereductase, mitochondrial succinate dehydrogenase
Components: |SDHA|SDHB|SDHC|SDHD|
Pathology
Leigh syndrome (SDHA)
deficiency of complex II of mitochondrial respiratory chain (MIM.252011) (SDHA)
susceptibility to head and neck paraganglioma (SDHB, SDHC, SDHD)
familial and isolated phaeochromocytoma (SDHD and SDHB)
early onset renal cell carcinoma (RCC) (SDHB)
References
Rustin P, Munnich A, Rotig A. Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet. 2002 May;10(5):289-91. PMID: 12082502
Baysal BE. On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol Metab. 2003 Dec;14(10):453-9. PMID: 14643060