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  4. Recombinant Human Fumarate hydratase, mitochondrial (FH)

Recombinant Human Fumarate hydratase, mitochondrial (FH)

  • 中文名稱：
    人FH重組蛋白
  • 貨號(hào)：
    CSB-YP008659HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱：
    人FH重組蛋白
  • 貨號(hào)：
    CSB-EP008659HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱：
    人FH重組蛋白
  • 貨號(hào)：
    CSB-EP008659HU-B
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人FH重組蛋白
  • 貨號(hào)：
    CSB-BP008659HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人FH重組蛋白
  • 貨號(hào)：
    CSB-MP008659HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    FH
  • Uniprot No.：
  • 別名：
    FH; Fumarase; Fumarate hydratase; Fumarate hydratase mitochondrial; Fumarate hydratase; mitochondrial; FUMH_HUMAN; HLRCC; LRCC; MCL; MCUL 1; MCUL1; MS709; Multiple hereditary cutaneous leiomyomata
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Full Length of Mature Protein
  • 表達(dá)區(qū)域：
    45-510
  • 氨基酸序列
    ASQNSF RIEYDTFGEL KVPNDKYYGA QTVRSTMNFK IGGVTERMPT PVIKAFGILK RAAAEVNQDY GLDPKIANAI MKAADEVAEG KLNDHFPLVV WQTGSGTQTN MNVNEVISNR AIEMLGGELG SKIPVHPNDH VNKSQSSNDT FPTAMHIAAA IEVHEVLLPG LQKLHDALDA KSKEFAQIIK IGRTHTQDAV PLTLGQEFSG YVQQVKYAMT RIKAAMPRIY ELAAGGTAVG TGLNTRIGFA EKVAAKVAAL TGLPFVTAPN KFEALAAHDA LVELSGAMNT TACSLMKIAN DIRFLGSGPR SGLGELILPE NEPGSSIMPG KVNPTQCEAM TMVAAQVMGN HVAVTVGGSN GHFELNVFKP MMIKNVLHSA RLLGDASVSF TENCVVGIQA NTERINKLMN ESLMLVTALN PHIGYDKAAK IAKTAHKNGS TLKETAIELG YLTAEQFDEW VKPKDMLGPK
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    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.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Catalyzes the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable).; Catalyzes the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH.; Catalyzes the dehydration of L-malate to fumarate. Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism. Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ). In response to DNA damage and phosphorylation by PRKDC, translocates to the nucleus and accumulates at DNA double-strand breaks (DSBs): acts by catalyzing formation of fumarate, an inhibitor of KDM2B histone demethylase activity, resulting in enhanced dimethylation of histone H3 'Lys-36' (H3K36me2).
  • 基因功能參考文獻(xiàn)：
    1. Our findings suggest that over half of histologically diagnosed leiomyomata with bizarre nuclei may be related to FH alterations or FH mutations PMID: 28863073
    2. In this study, all cases of atypical intradermal smooth muscle neoplasms and cutaneous leiomyosarcoma examined showed retained expression of FH PMID: 28703412
    3. we aimed in this study to examine these common functional pathways in uterine leiomyomas (ULM)with different driver mutations. We collected ULM with MED12, HMGA2, and FH mutations and examined the selected markers by immunohistochemistry. PMID: 29790226
    4. Induction of ferroptosis in fumarate hydratase-inactivated tumors represents an opportunity for synthetic lethality in cancer. PMID: 29917289
    5. A case series of 2 sisters in their 20s who presented with isolated uterine leiomyomas and were found to carry a novel mutation for the fumarate hydratase gene. PMID: 28700432
    6. The clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers has been reassessed. PMID: 28300276
    7. As with many emerging cancer syndromes, the phenotypic spectrum ofhereditary leiomyomatosis and renal cell cancer( HLRCC) is likely to expand as the FH gene becomes incorporated on more multiplex germline panels, which will also help to clarify the potential involvement of other tumor types in HLRCC PMID: 28620008
    8. A novel mutation in FH gene (c.1349_1352delATGA) in hereditary leiomyomatosis and renal cell cancer syndrome PMID: 27566483
    9. We show that the mechanism of fumarate hydratase distribution is alternative transcription initiation from a broad promoter. PMID: 27037871
    10. fumarate increases ferritin gene transcription by activating the NRF2 (nuclear factor [erythroid-derived 2]-like 2) transcription factor. PMID: 28289076
    11. FH-Ser75 phosphorylation level inversely correlates with the OGT level and poor prognosis in pancreatic cancer patients. Report mechanism underlying transcription regulation by FH and the linkage between dysregulated OGT activity and growth advantage of cancer cells under glucose deficiency. PMID: 28628081
    12. Loss of FH immunohistochemical (IHC) expression in cutaneous leiomyomas is a sensitive and specific marker for detection of hereditary leiomyomatosis and renal cell carcinoma (HLRCC). FH expression by IHC was absent in 9 specimens and retained in 85 specimens and 2 cases were equivocal with minimal FH expression while succinate dehydrogenase B expression was retained in 95 specimens and equivocal in 1 specimen. PMID: 28288038
    13. LSH promoted cancer progression in part by regulating expression of fumarate hydratase (FH). PMID: 27302170
    14. Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. PMID: 28747166
    15. Results indicate that FH-deficient uterine leiomyomas occur with a high frequency among atypical leiomyomas and infrequently in nonatypical leiomyomas and are often histologically distinctive. They seem to have a low biological potential and lack any significant association with leiomyosarcoma. PMID: 27454940
    16. Mutations in some enzymes of the TCA cycle: Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH) and fumarate hydratase (FH) are associated with the accumulation of metabolites that are able to influence many aspects of cancer development and progression and for this reason are termed onco-metabolites. PMID: 27528759
    17. Two partial FH gene deletions were identified, with one resulting in loss of exon 1 and the upstream region of the FH gene only. Kidney cancer was diagnosed in 9 (32%) of 28 patients and 7 (54%) of 13 families possessing either complete or partial FH deletions. Cutaneous and uterine leiomyomas were observed at similar rates to those in FH point mutation families PMID: 28196407
    18. Of the 12 available members of this second generation, 6 (1 man and 5 women, aged 44-57 years) had a novel FH mutation. All had the same mild phenotype with cutaneous asymptomatic leiomyomas, uterine fibroids (if women) and no kidney tumor. PMID: 27161211
    19. 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
    20. Negative FH staining could indicate a high risk of hereditary leiomyomatosis and renal cell cancer but it could also suggest the presence of a syndrome in up to 25% of sporadic cases. PMID: 27097334
    21. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male and his father, which predisposes to an aggressive form of renal cell cancer. PMID: 26275867
    22. While the great majority of patients with hereditary leiomyomatosis and renal cell carcinoma will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation. PMID: 26574848
    23. significant association with overall survival were confirmed for SDHC gene, SDHD gene and FH gene ... SDHC gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma PMID: 26377099
    24. Describe a novel mutation in the fumarate hydratase gene in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. PMID: 26493120
    25. Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval PMID: 26113603
    26. Morphology and immunohistochemistry for fumarate hydratase aid in detection of fumarate hydratase mutations in uterine leiomyomas from young patients. PMID: 26457356
    27. Case report of a family with a fumarate hydratase mutation causing uterine leiomyomas and renal cell cancer. PMID: 25923021
    28. These findings 1) confirm that germline FH mutations may present, albeit rarely with pheochromocytoma or paraganglioma; and 2) extend the clinical phenotype associated with FH mutations to pediatric pheochromocytoma. PMID: 25004247
    29. A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs). PMID: 24729973
    30. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. PMID: 24334767
    31. Novel missense mutation has been found in the fumarate hydratase gene in familial renal cell cancer patients lacking cutaneous leiomyomas. PMID: 24684806
    32. These results extend the range of clinical and biochemical variation associated with fumarase deficiency. PMID: 21560188
    33. Mutation in the fumarate hydratase gene is associated with hepatic diseases in twins. PMID: 24182348
    34. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. PMID: 22764886
    35. fumarate hydratase mRNA expression decreases significantly in correlation with the transition from normal renal parenchyma to renal cell cancer PMID: 23295344
    36. somatic mutations in FH do not show pronounced effect in nonsyndromic uterine leiomyomas compared to that of their syndromic counterparts. PMID: 22528940
    37. Gastric leiomyoma was diagnosed in 38 y/o female MCUL patient on endoscopy performed because of dyspepsia. Routine colonoscopy disclosed hyperplastic polyposis. Testing revealed a previously not reported mutation of the FH gene (c.422G>A, p.Trp141X). PMID: 22713448
    38. 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
    39. Inactivation of the TCA cycle enzyme, fumarate hydratase (FH), drives a metabolic shift to aerobic glycolysis in FH-de fi cient kidney tumors PMID: 21907923
    40. The crystal structure of human fumarate hydratase shows that mutations can be grouped into two distinct classes either affecting structural integrity of the core enzyme architecture, or are localized around the enzyme active site. PMID: 21445611
    41. reduced FH leads to the accumulation of hypoxia inducible factor- 2alpha (HIF-2alpha) PMID: 21695080
    42. Novel mutations within the FH gene are associated with hereditary leiomyomatosis and renal cell cancer. PMID: 21398687
    43. 4 novel mutations and 1 whole-gene deletion of fumarate hydratase in families with an autosomal dominant syndrome characterized by multiple cutaneous piloleiomyomas, uterine leiomyomas and papillary type 2 renal cance PMID: 20618355
    44. These experiments demonstrated that upregulation of HIF-1alpha occurs as a direct consequence of FH inactivation. PMID: 20660115
    45. first case of fumaric aciduria described in Brazil, which presented with some interesting clinical and biochemical findings such as colpocephaly, hepatic alterations, and marked metabolic acidosis since birth PMID: 20549362
    46. Data suggest that fumarase and fumaric acid are critical elements of the DNA damage response, which underlies the tumor suppressor role of fumarase in human cells and which is most probably HIF independent. PMID: 20231875
    47. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer PMID: 11865300
    48. changes in the turnover number and the cocrystal structure with bound citrate due to the human missense mutation G-955-C engineered in fumarase C from Escherichia coli PMID: 12021453
    49. Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas PMID: 12177782
    50. Review. Fumarate hydratase catalyses a step in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the gene encoding this enzymes causes predisposition to inherited neoplasia syndromes. PMID: 12612654

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  • 相關(guān)疾?。?/div>
    Fumarase deficiency (FMRD); Hereditary leiomyomatosis and renal cell cancer (HLRCC)
  • 亞細(xì)胞定位：
    [Isoform Mitochondrial]: Mitochondrion.; [Isoform Cytoplasmic]: Cytoplasm, cytosol. Nucleus. Chromosome.
  • 蛋白家族：
    Class-II fumarase/aspartase family, Fumarase subfamily
  • 組織特異性：
    Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 3700

    OMIM: 136850

    KEGG: hsa:2271

    STRING: 9606.ENSP00000355518

    UniGene: Hs.592490