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  4. Recombinant Human Glucose-6-phosphatase 3 (G6PC3), partial

Recombinant Human Glucose-6-phosphatase 3 (G6PC3), partial

  • 中文名称：
    人G6PC3重组蛋白
  • 货号：
    CSB-YP874813HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人G6PC3重组蛋白
  • 货号：
    CSB-EP874813HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人G6PC3重组蛋白
  • 货号：
    CSB-EP874813HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 中文名称：
    人G6PC3重组蛋白
  • 货号：
    CSB-BP874813HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人G6PC3重组蛋白
  • 货号：
    CSB-MP874813HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    G6PC3; UGRPGlucose-6-phosphatase 3; G-6-Pase 3; G6Pase 3; EC 3.1.3.9; Glucose-6-phosphatase beta; G6Pase-beta; Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.
  • 基因功能参考文献：
    1. these results indicated that coronin3 is significantly dysregulated in hepatocellular carcinoma tumor tissues, and may exert its function via regulating G6PC3 expression. PMID: 28713988
    2. mir-122 and its targets G6PC3, ALDOA and CS play roles in the hypoxia responses that regulate glucose and energy metabolism and can serve as hypoxia biomarkers. PMID: 27793029
    3. classic features of SCN IV found to share an identical inherited canonical splice-site mutation of the G6PC3 gene (c.218+1G>A). PMID: 27571123
    4. Multilineage involvement of immune system occurs in G6PC3 deficiency in addition to the previously described neutropenia and multiple abnormalities. PMID: 26479985
    5. G6PC3 defects should be considered in any case of congenital, unexplained neutropenia regardless of the clinical phenotype. PMID: 25391451
    6. functional characterization of 16 of the 19 known missense mutations in severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency;14 missense mutations completely abolish G6Pase-beta activity while the p.S139I and p.R189Q mutations retain 49% and 45%, respectively of wild type activity PMID: 25492228
    7. Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity. PMID: 25491320
    8. A role for G6PC3 in testicular differentiation and formation. PMID: 24796372
    9. G6PC3 mutation is associated with severe congenital neutropenia. PMID: 25284454
    10. Glucose 6 phosphatase catalytic subunit-3 deficiency due to mutation is a heterogenous disorder characterized by severe congenital neutropenia. PMID: 24322501
    11. Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects. PMID: 24105461
    12. review of clinical, molecular and genetic aspects of G6PC3 deficiency; loss of function in missense G6PC3 mutations likely results from decreased enzyme stability; the condition can be diagnosed by sequencing G6PC3 gene; a number of G6PC3 ounder mutations are known in various populations and possible genotype-phenotype relationship also exists PMID: 23758768
    13. 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations have been identified in Iranian patients with severe congenital neutropenia. PMID: 23454784
    14. G6PC3 deficiency may present with inflammatory bowel disease and T cell lymphopenia. The diagnosis should thus be considered in a patient with chronic congenital neutropenia and gastrointestinal symptoms. PMID: 23180359
    15. G6PC3 mutations cause non-syndromic severe congenital neutropenia. PMID: 23298686
    16. Three different homozygous G6PC3 mutations were detected in four of the 108 patients/kindreds studied. Parents of affected individuals were all heterozygous for the mutation. PMID: 22469094
    17. The phenotypic and molecular spectrum in G6PC3 deficiency is wider than previously appreciated. The risk of transition to myelodysplastic syndrome or acute myeloid leukemia may be lower in G6PC3 deficiency compared with other subgroups of SCN PMID: 22050868
    18. Sequence analyses of G6PC3 in 2 patients with Severe congenital neutropenia revealed two different homozygous mutations PMID: 21891829
    19. analysis of SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia [case report] PMID: 21677667
    20. G6PC3 mutations are associated with a major defect of glycosylation resulting in glycogen storage disease type-1. PMID: 21385794
    21. G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associating congenital neutropenia with various developmental defects including cardiac and urogenital malformations PMID: 21206270
    22. We provide an overview of the non-haematological features of the condition with a focus on the adult severe congenital neutropenia phenotype, which has not previously been described in detail caused by mutations in G6PC3. PMID: 20717171
    23. genetic association studies between G6PC3 mutations and bone marrow phenotype/pathology: findings do not support a genotype-phenotype relationship -- possibility of founder mutations in patients with Caucasian and Middle Eastern ancestry PMID: 21264919
    24. Mutaations in G6PC3 cause severe congenital neutropenia type 4. PMID: 20799326
    25. in nonapoptotic neutrophils, G6PC3 is essential for normal energy homeostasis. A G6PC3 deficiency prevents recycling of ER glucose to the cytoplasm, leading to neutrophil dysfunction PMID: 20498302
    26. identified a family with 2 children with homozygous G6PC3 G260R mutations, a loss of enzymatic function, and typical syndrome features with the exception that their bone marrow biopsy pathology revealed abundant neutrophils consistent with myelokathexis PMID: 20616219
    27. describe congenital neutropenia patients with mutations in two candidate genes each,HAX1 and G6PC3, including 6 novel mutations PMID: 20220065
    28. ubiquitously expressed G6Pase catalytic subunit-related protein; has a similar predicted transmembrane topology and conservation of many catalytically important residues with the G6Pase catalytic subunit (UGRP) PMID: 12370122
    29. Molecular cloning and characterization of G6PC3, a new glucose-6-phosphatase isoform. PMID: 12965222
    30. Thirty-three French-Canadian families with non-dystrophic myotonia were identified.Thirteen mutations were identified in CLCN1 and five mutations were identified in SCN4A PMID: 18337100
    31. Defective function of glucose-6-phosphatase, catalytic subunit 3, underlies a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations. PMID: 19118303

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  • 相关疾病：
    Neutropenia, severe congenital 4, autosomal recessive (SCN4); Dursun syndrome (DURSS)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Glucose-6-phosphatase family
  • 组织特异性：
    Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocy
  • 数据库链接：

    HGNC: 24861

    OMIM: 611045

    KEGG: hsa:92579

    STRING: 9606.ENSP00000269097

    UniGene: Hs.294005