Name = succinate dehydrogenase complex, subunit D, integral membrane protein
HGNCid = 10683
Symbol = SDHD
AltSymbols = PGL, PGL1
EntrezGene = 6392
OMIM = 602690
RefSeq = NM_003002
UniProt = O14521
Chromosome = 11
Arm = q
Band = 23
SDHD, which stands for
succinate dehydrogenasecomplex subunit D, is one of the two transmembrane subunits of the four-subunit succinate dehydrogenaseprotein complex that resides in the inner mitochondrialmembrane. It also refers to the genethat codes for this protein. The other transmembrane subunit is SDHC. SDHD/SDHC are connected to the SDHBelectron transfer subunit. SDHB in turn transfers electrons from the SDHAsubunit to the SDHC/SDHD dimer.
Succinate dehydrogenase is an important
enzymein both the citric acid cycleand the electron transfer chain
The SDHD gene is located on chromosome 11, at
locus11q23. Names previously used for SDHD were PGL and PGL1.
Role in disease
Mutations in the SDHD
genecan cause familial paraganglioma.
Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000.Baysal, B.E. et al. 2000. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma."Science". Vol. 287 pg. 848- 851.] Since then, it has been shown that mutations in SDHB and to a lesser degree SDHC can cause paranglioma as well familial
pheochromocytoma. Notably, the tumor spectrum is different for the different mutations. SDHB mutations often lead to metastatic disease that is extra-adrenal, while SDHD mutation related tumors are more typically benign, originating in the head and neck.
The exact mechanism for tumorigenesis is not determined, but it is suspected that malfunction of the SDH complex can cause a hypoxic response in the cell that leads to tumor formation. People living at higher altitudes (for example, the Andes mountains) are known to have an increased rate of benign paraganglioma, with the rate of disease increasing with the altitude of the poplulation.
* [http://www.gene.ucl.ac.uk/nomenclature/data/get_data.php?hgnc_id=10683 SDHD from the HUGO Gene Nomenclature Committee]
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