succinate dehydrogenase
Components: |SDHA|SDHB|SDHC|SDHD|
The succinate dehydrogenase complex has several cofactors, including flavin, iron-sulfur centers and heme.
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)
pheochromocytoma-paraganglioma syndrome
Cowden disease (#18678321#)
Cowden-like syndromes (#18678321#)
References
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 Aug;83(2):261-8.PMID: #18678321#
Reviews
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#