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SDHD

MIM.602690 11q23

SDHD is one of the four genes (SDHA, SDHB, SDHC, SDHD) that encode mitochondrial succinate dehydrogenase.

Function

Complex II (succinate-ubiquinone oxidoreductase) is an important enzyme complex in both the tricarboxylic acid cycle and the aerobic respiratory chains of mitochondria in eukaryotic cells and prokaryotic organisms.

Pathology

- susceptibility to head and neck paraganglioma
- familial and isolated phaeochromocytoma
- pheochromocytoma-paraganglioma syndrome
- Cowden disease (16258955)
- Cowden-like syndrome (16258955)

NB: No evidence of SDHD in neuroblastoma pathogenesis (15331017).

References

- A novel mutation in the SDHD gene in a family with inherited paragangliomas—implications of genetic diagnosis for follow up and treatment. Renard L, Godfraind C, Boon LM, Vikkula M. Head Neck. 2003 Feb;25(2):146-51. PMID: 12509798