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  4. Recombinant Human Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial (SDHA), partial

Recombinant Human Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial (SDHA), partial

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  • 中文名稱：
    人SDHA重組蛋白
  • 貨號(hào)：
    CSB-EP020903HU1a0
  • 規(guī)格：
    ￥1344
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 別名：
    CMD1GG; DHSA_HUMAN; Flavoprotein subunit of complex II; Fp; PGL5; SDH 2; SDH1; SDH2; SDHA; SDHF; Succinate dehydrogenase [ubiquinone] flavoprotein subunit; Succinate dehydrogenase [ubiquinone] flavoprotein subunit mitochondrial; Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; Succinate dehydrogenase complex flavoprotein subunit A; Succinate dehydrogenase complex flavoprotein subunit; Succinate dehydrogenase complex flavoprotein subunit precursor; Succinate dehydrogenase complex subunit A; Succinate dehydrogenase complex subunit A flavoprotein (Fp); Succinate dehydrogenase complex subunit A flavoprotein
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 來源：
    E.coli
  • 分子量：
    31.1kDa
  • 表達(dá)區(qū)域：
    44-293aa
  • 氨基酸序列
    SAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFV
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標(biāo)簽：
    N-terminal 6xHis-tagged
  • 產(chǎn)品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
    Note: If you have any special requirement for the glycerol content, please remark when you place the order.
    If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    3-7 business days
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor.
  • 基因功能參考文獻(xiàn)：
    1. The six index cases described here presented with a variety of clinical manifestations extending the known phenotypic spectrum in SDHA disease. PMID: 28500238
    2. Report left ventricular non-compaction associated with Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes in multiple members of one family. PMID: 29508483
    3. We used a yeast model to characterize 22 SDHA VUS. These data revealed 16 (73%) of SDHA VUS as loss of function (and therefore pathogenic), highlighting the importance of understanding such variants to provide better clinical recommendations for genetic counselors concerning family screening and early detection protocols. PMID: 28724664
    4. Germline SDHA mutations are relatively common (7.6%) in patients with genetically unexplained paraganglioma (PGL). Most index patients presented with apparently sporadic PGL. In this SDHA series, the largest assembled so far, we found the lowest penetrance of all major PGL predisposition genes. PMID: 29177515
    5. We found that microRNA 31 (miR-31) suppressed succinate dehydrogenase complex subunit A (SDHA) expression, vital for mitochondrial electron transport chain (ETC) complex II PMID: 27346679
    6. This is only the second report supporting the dominant nature of the SDHA c.1351C>T (p.Arg451Cys) mutation being causative for an autosomal dominantly inherited mitochondrial metabolic disorder expanding the phenotypic presentation to an earlier onset of disease with additional cardiac involvement. PMID: 27683074
    7. The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma. PMID: 28384794
    8. SDH-deficient gastrointestinal stromal tumors (GISTs) account for approximately 8% of gastric GISTs and are associated with a high rate of distant metastasis, regardless of conventional risk category. PMID: 27340750
    9. For classification, tumors were characterized by SDHA, B, C, or D (SDHX) mutations and other genetic and epigenetic alterations, including presence of mutations in germline PMID: 27011036
    10. data show that SDHA flavination is independent of SDHAF2 in breast cancer cells, employing an alternative mechanism. PMID: 27587393
    11. FAD interacts noncovalently with SDHA in the absence of SDH5 PMID: 27296776
    12. After indirect co-culture, OP was increased in the BxPc-3 and Panc-1 cells; correspondingly, succinate dehydrogenase, FH and MCT expression were increased. After the MCT1-specific inhibitor removed 'tumor-stromal' metabolic coupling, the migration and invasion abilities of the pancreatic cancer cells were decreased. PMID: 28260082
    13. Data suggest that succinate dehydrogenases SDHA and SDHB immunohistochemistry should be interpreted with caution, due to possible false-positive or false-negative results, and ideally in the setting of quality assurance provided by molecular testing. PMID: 28179334
    14. Combined blockade of CDK and SDH, both genetically and pharmaceutically, showed synergy and resulted in inhibited proliferation, migration, invasion and migration in A2780 cells Cyclin E-driven OvCa cells appeared addicted to glucose metabolism via TCA. Combined CDKi with modalities targeting TCA, like SDHA inhibition showed promising effects for this genotype. PMID: 26826064
    15. According to international guidelines, SDHB, SDHC, and SDHD genetic testing were performed in this patient, but not SDHA, which would have been prescribed only after surgery, in case of SDHA negative immunohistochemistry PMID: 26490314
    16. 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. PMID: 26697888
    17. our findings provide further evidence that patients with KIT/PDGFRA wild-type SDH-deficient GIST harboring SDHA mutations experience good survival outcomes PMID: 25188872
    18. 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. PMID: 26259135
    19. Three novel mutations in SDHA were found in patients presenting Leigh syndrome (LS) and/or leukodystrophy. PMID: 24781757
    20. 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 PMID: 23612575
    21. 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. PMID: 23743927
    22. 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). PMID: 24414418
    23. Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese compared with non-obese pregnant women. PMID: 23956348
    24. A significant subset of bladder paragangliomas is SDH deficient PMID: 23797725
    25. SDHA immunohistochemistry on gastrointestinal stromal tumors can identify the presence of an SDHA germline mutation. PMID: 23174939
    26. In the paraganglioma of the proband, in addition to the germline mutation, a somatic mutation was observed (c.1865G>A, p.Trp622*). PMID: 23633203
    27. 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. PMID: 23291190
    28. 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. PMID: 22955521
    29. 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. PMID: 23000077
    30. 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. PMID: 23174333
    31. Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation. PMID: 23380393
    32. 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. PMID: 22974104
    33. 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. PMID: 23109135
    34. 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. PMID: 22972948
    35. Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors. PMID: 23060355
    36. SDHA-negative gastrointestinal stromal tumors comprise approximately 30% of SDHB-negative/SDH-deficient gastrointestinal stromal tumors, and SDHA loss generally correlates with SDHA mutations. PMID: 23282968
    37. 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. PMID: 22677546
    38. 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. PMID: 21505157
    39. 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. PMID: 20489732
    40. 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 PMID: 20551992
    41. Decreased electron Transport Complex II activity is associated with ulcerative colitis. PMID: 20440543
    42. Mutations in electron Transport Complex II is associated with Leber hereditary optic neuropathy failing to compensate for impaired oxidative phosphorylation. PMID: 19836344
    43. 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. PMID: 12612654
    44. 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. PMID: 17376234
    45. Phosphorylation of flavoprotein subunit ofsuccinate-ubiquinone reductase might be important for maintaining mitochondrial energy metabolism within the tumor microenvironment. PMID: 19644226

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  • 相關(guān)疾?。?/div>
    Mitochondrial complex II deficiency (MT-C2D); Leigh syndrome (LS); Cardiomyopathy, dilated 1GG (CMD1GG); Paragangliomas 5 (PGL5)
  • 亞細(xì)胞定位：
    Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
  • 蛋白家族：
    FAD-dependent oxidoreductase 2 family, FRD/SDH subfamily
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10680

    OMIM: 252011

    KEGG: hsa:6389

    STRING: 9606.ENSP00000264932

    UniGene: Hs.440475