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NCBI Gene PubMed Count 57
PubMed Score 149.30
PubTator Score 83.18

Knowledge Summary


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Gene RIF (36)

26697888 As a similar defect of succinate dehydrogenase is apparent in patient cell-derived cardiomyocytes, the authors conclude that these defects represent a molecular basis for the cardiac pathology in Barth syndrome.
26259135 This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. Also, pancreatic neuroendocrine tumor falls within the SDH-related tumor spectrum.
25188872 our findings provide further evidence that patients with KIT/PDGFRA wild-type SDH-deficient GIST harboring SDHA mutations experience good survival outcomes
24781757 Three novel mutations in SDHA were found in patients presenting Leigh syndrome (LS) and/or leukodystrophy.
24414418 Data indicate that SDH5 is protected from mitochondrial LON protease (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2).
23956348 Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese compared with non-obese pregnant women.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of succinate dehydrogenase complex, subunit A (SDHA) expression by HIV-1 Vpr in Vpr transduced macrophages
23797725 A significant subset of bladder paragangliomas is SDH deficient
23743927 SDH deficiency may promote tumorigenesis through accumulation of succinate and inhibition of dioxygenase enzymes. Inhibition of TET activity may, in turn, alter global DNA methylation and gene expression in SDH-deficient tumors.
23633203 In the paraganglioma of the proband, in addition to the germline mutation, a somatic mutation was observed (c.1865G>A, p.Trp622*).
23612575 Overall, 9 of the 34 patients with KIT/PDGFRA wild-type GIST carried mutations in one of the four subunits of the SDH complex (six patients in SDHA, two in SDHB, one in SDHC
23380393 Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation.
23291190 Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families.
23282968 SDHA-negative gastrointestinal stromal tumors comprise approximately 30% of SDHB-negative/SDH-deficient gastrointestinal stromal tumors, and SDHA loss generally correlates with SDHA mutations.
23174939 SDHA immunohistochemistry on gastrointestinal stromal tumors can identify the presence of an SDHA germline mutation.
23174333 Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
23109135 Data indicate that SDHB-deficiency was tightly associated with overexpression of IGF1R protein and transcript, and Biallelic inactivation of the SDHA gene was identified in 5 of 11 SDHB-negative gastrointestinal stromal tumors.
23060355 Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
23000077 Studies indicate that the pH change leads to the dissociation of SDHA and SDHB subunits from the remaining membrane-anchored subunits and the consequent block of enzymatic succinate-ubiquinone reductase (SQR) activity.
22974104 A germline p.Arg31X nonsense SDHA mutation was identified in one of the six wild-type gastrointestinal stromal tumors cases. An additional SDHA missense mutation was identified in the extended KIT/PDGFRA WT GIST patients cohort.
22972948 This report represents the first example of SDHB mutation as a cause of inherited mitochondrial respiratory chain disease and extends the SDHA mutation spectrum in patients with isolated complex II deficiency.
22955521 Loss of SDHA expression in gastrointestinal stromal tumor (GIST) reliably predicts the presence of SDHA mutations, which represent a relatively common cause of SDH-deficient GIST in adults.
22677546 Tumor-derived FH and SDH mutations accumulate fumarate and succinate, leading to enzymatic inhibition of multiple alpha-KG-dependent dioxygenases and consequent alterations of genome-wide histone and DNA methylation.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
22190034 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of succinate dehydrogenase complex, subunit A (SDHA) expression by HIV-1 Vpr in Vpr transduced macrophages
21505157 First report describing germline and somatic loss-of-function mutations in SDHA that are linked to the development of sporadic KIT/PDGFRA wild-type GISTs.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20551992 study presents the association of a mutation in the SDHA gene with recessive neonatal isolated dilated cardiomyopathy in 15 patients of two large consanguineous Bedouin families
20489732 Cells with Complex II defect may undergo a progressive mitochondrial dysfunction, characterized by Dcmit loss, Calcium overload and increased ROS, eventually leading to cell death.
20440543 Decreased electron Transport Complex II activity is associated with ulcerative colitis.
19836344 Mutations in electron Transport Complex II is associated with Leber hereditary optic neuropathy failing to compensate for impaired oxidative phosphorylation.
19644226 Phosphorylation of flavoprotein subunit ofsuccinate-ubiquinone reductase might be important for maintaining mitochondrial energy metabolism within the tumor microenvironment.
19064571 Observational study of gene-disease association. (HuGE Navigator)
17376234 The SDHA variants that have increased in frequency during human evolution might, by influencing the regulation of cellular oxygen homeostasis, confer protection against certain environmental toxins or pathogens that are prevalent in Africa.
17298551 Observational study of gene-disease association. (HuGE Navigator)
12612654 Review. Succinate dehydrogenase catalyses a step in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the gene encoding this enzyme causes a predisposition to inherited neoplasia syndromes.

AA Sequence

DVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY                                        631 - 664

Text Mined References (62)

PMID Year Title
26697888 2016 Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome.
26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25712143 2015 An abnormality in glucocorticoid receptor expression differentiates steroid responders from nonresponders in keloid disease.
25188872 2015 Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations.
24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23956348 2013 Skeletal muscle MnSOD, mitochondrial complex II, and SIRT3 enzyme activities are decreased in maternal obesity during human pregnancy and gestational diabetes mellitus.
23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.
23747254 2013 The mitochondrial chaperone TRAP1 promotes neoplastic growth by inhibiting succinate dehydrogenase.
23743927 2013 Succinate dehydrogenase deficiency is associated with decreased 5-hydroxymethylcytosine production in gastrointestinal stromal tumors: implications for mechanisms of tumorigenesis.
23633203 2013 Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.
23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
23380393 2013 Emerging concepts in the flavinylation of succinate dehydrogenase.
23291190 2013 Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
23174939 2013 SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.
23174333 2013 The role of complex II in disease.
23109135 2013 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.
23060355 2013 Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
23000077 2013 Respiratory chain complex II as general sensor for apoptosis.
22974104 2012 SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.
22972948 2012 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
22955521 2013 Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.
22823520 2012 Mitochondrial c-Src regulates cell survival through phosphorylation of respiratory chain components.
22677546 2012 Inhibition of ?-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
21505157 2011 SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20551992 2010 Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
20489732 2010 Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.
20440543 2010 Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis.
19836344 2010 Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.
19688755 2009 LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
19644226 2009 Regulation of succinate-ubiquinone reductase and fumarate reductase activities in human complex II by phosphorylation of its flavoprotein subunit.
19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
17376234 2007 Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA.
17298551 2007 Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.
16826196 2007 Coupling mitochondrial respiratory chain to cell death: an essential role of mitochondrial complex I in the interferon-beta and retinoic acid-induced cancer cell death.
16751257 2006 Housekeeping genes for phylogenetic analysis of eutherian relationships.
16361598 2006 Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16143825 2005 Succinate dehydrogenase deficiency in human.
15961414 2005 Frataxin interacts functionally with mitochondrial electron transport chain proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15242332 2004 Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12794685 2003 Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11120693 2000 Decreased SLIM1 expression and increased gelsolin expression in failing human hearts measured by high-density oligonucleotide arrays.
10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
8142412 1994 The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7798181 1994 Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria.
7550341 1995 Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.