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#