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  4. Recombinant Human Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (SDHD)

Recombinant Human Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (SDHD)

  • 中文名稱：
    人SDHD重組蛋白
  • 貨號：
    CSB-CF020909HU
  • 規(guī)格：
  • 來源：
    in vitro E.coli expression system
  • 其他：

產(chǎn)品詳情

  • 基因名：
  • Uniprot No.：
  • 別名：
    SDHD; SDH4; Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; CybS; CII-4; QPs3; Succinate dehydrogenase complex subunit D; Succinate-ubiquinone oxidoreductase cytochrome b small subunit; Succinate-ubiquinone reductase membrane anchor subunit
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區(qū)域：
    57-159
  • 氨基酸序列
    SGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVH GDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL
    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 10xHis-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：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 儲存條件：
    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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    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)品評價

靶點詳情

  • 功能：
    Membrane-anchoring 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).
  • 基因功能參考文獻：
    1. In 25 Mexican patients with carotid body tumors, there were 4 with a heterozygous p81L SDHD (11q23) gene mutation. This is greater than the rate in the U.S. population and may explain the high incidence of this pathology in Mexico. PMID: 29681642
    2. Mutations in one of the five genes encoding the succinate dehydrogenase or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas and paragangliomas--REVIEW PMID: 28924001
    3. A targeted familial genetic test should be proposed from the age of 18 years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers PMID: 27856506
    4. Loss of SDHD gene is associated with paragangliomas. PMID: 28099933
    5. promoter mutation seems to be a rare event in CM but SDHD lower expression might associate with worst prognostic features in CM PMID: 28662141
    6. role for GABPA/B1 as the critical ETS transcription factors deregulating SDHD expression in the context of highly recurrent promoter mutations in melanoma. PMID: 28108517
    7. Mortality rates and survival in a Dutch cohort of SDHD variant carriers does not differ from that of the general Dutch population. PMID: 25758995
    8. Melanomas harbor recurrent SDHD promoter mutations, which occur primarily as C>T alterations in UV-exposed melanomas. PMID: 26327518
    9. Loss of SDH activity leads to changes in the metabolism of non-essential amino acids. PMID: 26522426
    10. Metabolic sensors via Sirt3 maximize the cellular reserve respiratory capacity through activating mitochondrial complex II, which enhances cell survival after hypoxia. PMID: 26225774
    11. Data indicate that double pathogenic mutations in the succinate dehydrogenase complex subunit D (SDHD) gene is associated with the aggressive paraganglioma syndrome type 1 (PGL1) phenotype. PMID: 25819804
    12. suggested that SDHD mutation may enhance the overexpression of miR-101 in malignant tumors and miR-101 may be a potential diagnostic biomarker for malignant pheochromocytoma and benign pheochromocytoma PMID: 25973039
    13. Hereditary pheochromocytoma / paraganglioma associated with SDHD gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. PMID: 26591561
    14. Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHD gene cause Paragangliomas only when the mutation is inherited from father. PMID: 24973967
    15. SDHD deletions in a group of unrelated patients with developmental delay and partial monosomy at chromosome 11. PMID: 25735893
    16. SDHD mutations are associated with protein and nuclear and mitochondrial genomic instability and increase reactive oxygen species production in an yeast model. PMID: 25328978
    17. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency PMID: 26008905
    18. This study is the first report of hereditary paraganglioma-pheochromocytoma syndromes with SDHD and RET mutations. PMID: 24375508
    19. assessed the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluatde potential differences in clinical phenotypes due to specific SDHD gene mutations PMID: 23586964
    20. we simultaneously sequenced the genome of all subunits, SDHA, SDHB, SDHC, and SDHD in a larger series of KIT/PDGFRA wild-type GIST in order to evaluate the frequency of the mutations and explore their biological role PMID: 23612575
    21. Results show that transmission of SDHD mutations via the maternal line can, in rare cases, result in tumorigenesis. PMID: 25300370
    22. Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role. PMID: 24322175
    23. Asymptomatic carriers of an SDHD mutation are at a high risk for occult parasympathetic paraganglioma. PMID: 22948026
    24. The high prevalence of the G12S polymorphism of the SDHD gene in patients with multiple endocrine neoplasia type 2A raises questions about its role as a genetic modifier, but this proposal remains to be established. PMID: 22584711
    25. In paraganglioma, 10 different SDHD mutations were detected. PMID: 22566194
    26. No mutations were found in SDHD gene in cases of pheochromocytoma and abdominal paraganglioma in Western Sweden. PMID: 22270996
    27. Description of the first kindred with a germline SDHD pathogenic mutation, inherited paragangliomas, and acromegaly due to a GH-producing pituitary adenoma. PMID: 22170724
    28. two mis-sense mutations at the start codon of the SDHD gene, including p.Met1Val (c.1A>G) and p.Met1Ile (c.3G>C), might be mutation hotspots in Chinese patients with familial Head and neck paragangliomas PMID: 21945342
    29. Combination of demographic/geographical/historical conditions in Trentino, Italy, resulted in oldest/largest SDHD founder effect so far characterized and has transformed a rare disease (paraganglioma syndrome type 1) into an endemic disease. PMID: 22456618
    30. The results provide molecular evidence for imprinting at a boundary element flanking the SDHD locus and suggest that epigenetic suppression of the maternal allele is the underlying mechanism of the imprinted penetrance of SDHD mutations. PMID: 21862453
    31. The large majority of the patients carried mutations in SDHD (83%), and the p.Asp92Tyr Dutch founder mutation in SDHD alone accounted for 72% of all patients with HNPGL. PMID: 21561462
    32. pheochromocytoma formation can occur after maternal transmission of SDHD;tumor formation in SDHD mutation requires loss of wild-type SDHD allele and maternal 11p15 leading to predominant but not exclusive inheritance pattern after paternal SDHD transm PMID: 21937622
    33. mutation related to familial paraganglioma: the deletion was c.165_169 + 14del PMID: 21619495
    34. study found there is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation PMID: 21792967
    35. analysis of SDHD mutations in pheochromocytomas and paragangliomas patients PMID: 20505258
    36. These data describe a large SDHD deletion at the genomic sequence level and indicate that gross SDHD deletions could be a founder paraganglioma mutation in certain populations. PMID: 20111059
    37. Both the risk of paraganglioma and phaeochromocytoma formation, and the risk of developing associated symptoms were investigated in 243 family members with the SDHD.D92Y founder mutation. PMID: 19584903
    38. R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway PMID: 11605159
    39. Alterations of the SDHD gene are involved in the tumorigenesis of both midgut carcinoids and Merkel cell carcinomas. PMID: 12007193
    40. identification of novel mutations in patients with phaeochromocytoma and/or paraganglioma PMID: 12111639
    41. Germ-line mutation in SDHD is associated with parasympathetic paraganglioma PMID: 12114404
    42. Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect. PMID: 12782822
    43. SDHD may have a role in colorectal and gastric cancers as a distinct type of tumor suppressor PMID: 12883710
    44. Loss of chromosome 11 regions, including the deletion of PGL1 and PGL2 loci, may result in a severe phenotype, as exemplified by the development of paraganglioma. PMID: 15066320
    45. germline mutation in the succinate dehydrogenase subunit D (SDHD) gene PMID: 15365827
    46. Germline mutation on the SDHD gene was present in patients with pheochromocytoma or functional paraganglioma. PMID: 16314641
    47. Pseudo-hypoxia can be observed in SDH-suppressed cells in the absence of oxidative stress and in the presence of effective antioxidant treatment. PMID: 16797480
    48. prevalence of paragangliomas in carriers of D92Y mutations is at least 2.5%. PMID: 17227803
    49. The genes most frequently implicated: SDHD and SDHB, also predispose to phaeochromocytoma. SDHD shows a complex inheritance pattern - tumours do not develop if the mutation is inherited from the mother. PMID: 17298303
    50. mutation not found in Chinese patients with sporadic pheochromocytoma/paraganglioma PMID: 17526943

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  • 相關(guān)疾病：
    Paragangliomas 1 (PGL1); Pheochromocytoma (PCC); Intestinal carcinoid tumor (ICT); Paraganglioma and gastric stromal sarcoma (PGGSS); Cowden syndrome 3 (CWS3); Mitochondrial complex II deficiency (MT-C2D)
  • 亞細胞定位：
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    CybS family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10683

    OMIM: 114900

    KEGG: hsa:6392

    STRING: 9606.ENSP00000364699

    UniGene: Hs.356270