| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

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#



Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com