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  4. Recombinant Human 3-beta-hydroxysteroid-Delta (8),Delta (7)-isomerase (EBP)

Recombinant Human 3-beta-hydroxysteroid-Delta (8),Delta (7)-isomerase (EBP)

  • 货号：
    CSB-CF624016HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    EBP
  • Uniprot No.：
  • 别名：
    EBP; 3-beta-hydroxysteroid-Delta(8,Delta(7-isomerase; Cholestenol Delta-isomerase; Delta(8-Delta(7 sterol isomerase; D8-D7 sterol isomerase; Emopamil-binding protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-230
  • 氨基酸序列
    TTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTW RRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCM ETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGH PLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
  • 基因功能参考文献：
    1. This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2. PMID: 24700572
    2. Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2. PMID: 24915996
    3. With non-mosaic EBP mutations in males. PMID: 24459067
    4. Report steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis. PMID: 24493593
    5. Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system. PMID: 24106871
    6. Results show a clear relationship between abnormal sterol profile and the EBP gene mutation PMID: 22121851
    7. postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation. PMID: 21931045
    8. Molecular analysis of EBP mutations were made. PMID: 17378690
    9. Emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944
    10. We found two novel (3G-->T and 419-422delTTCT) and one known mutation in the EBP gene. The strong phenotypic variability in our patients suggests that there is no clear genotype-phenotype correlation. PMID: 17949453
    11. two unrelated Thai girls with chondrodysplasia punctata type 2. Mutation analysis by PCR-sequencing the entire coding region of emopamil binding protein(EBP) successfully revealed two potentially pathogenic, novel mutations, c.616G-->T and c.382delC. PMID: 18573709

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  • 相关疾病：
    Chondrodysplasia punctata 2, X-linked dominant (CDPX2); MEND syndrome (MEND)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus envelope. Cytoplasmic vesicle.
  • 蛋白家族：
    EBP family
  • 数据库链接：

    HGNC: 3133

    OMIM: 300205

    KEGG: hsa:10682

    STRING: 9606.ENSP00000417052

    UniGene: Hs.30619