Succinate Dehydrogenase Complex Subunit D (SDHD)

PGL; PGL1; QPs3; Succinate-ubiquinone reductase membrane anchor subunit; Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

SPN	N518
HGNC	10683
MGI	1914175
PubMed	1301144
RGD	735231
UniProt	O14521
Wiki	SDHD

SDHD, which stands for succinate dehydrogenase complex subunit D, is one of the two transmembrane subunits of the four-subunit succinate dehydrogenase protein complex that resides in the inner mitochondrial membrane. It also refers to the gene that codes for this protein.

Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000. 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.

Reference

"Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23."
Cytogenet. Cell Genet. 79:132-138(1997) [PubMed] [Europe PMC] [Abstract]

"Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase."
Biochim. Biophys. Acta 1412:295-300(1999) [PubMed] [Europe PMC] [Abstract]

"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma."
Cancer Res. 60:6822-6825(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma."
Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract]

"Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma."
Am. J. Med. Genet. 100:311-314(2001) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss."
Genes Chromosomes Cancer 31:255-263(2001) [PubMed] [Europe PMC] [Abstract]

"Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene."
Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract]

"Germline SDHD mutation in paraganglioma of the spinal cord."
Oncogene 20:5084-5086(2001) [PubMed] [Europe PMC] [Abstract]

"Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas."
Genes Chromosomes Cancer 34:325-332(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas."
Cancer Res. 63:5615-5621(2003) [PubMed] [Europe PMC] [Abstract]

"Germ-line mutations in nonsyndromic pheochromocytoma."
N. Engl. J. Med. 346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract]

"G12S and H50R variations are polymorphisms in the SDHD gene."
Genes Chromosomes Cancer 37:220-221(2003) [PubMed] [Europe PMC] [Abstract]

"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations."
JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract]

Erratum
JAMA 292:1686-1686(2004)

"SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism."
Clin. Genet. 65:61-63(2004) [PubMed] [Europe PMC] [Abstract]

"Familial gastrointestinal stromal tumors and germ-line mutations."
N. Engl. J. Med. 357:1054-1056(2007) [PubMed] [Europe PMC] [Abstract]

"Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes."
Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]