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  4. Recombinant Human Peroxisome biogenesis factor 1 (PEX1), partial

Recombinant Human Peroxisome biogenesis factor 1 (PEX1), partial

  • 中文名稱：
    人PEX1重組蛋白
  • 貨號(hào)：
    CSB-YP017793HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人PEX1重組蛋白
  • 貨號(hào)：
    CSB-EP017793HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人PEX1重組蛋白
  • 貨號(hào)：
    CSB-EP017793HU-B
  • 規(guī)格：
  • 來源：
    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PEX1重組蛋白
  • 貨號(hào)：
    CSB-BP017793HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人PEX1重組蛋白
  • 貨號(hào)：
    CSB-MP017793HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    PEX1
  • Uniprot No.：
  • 別名：
    Highly similar to ATPase [H.sapiens]; Peroxin 1; Peroxin-1; peroxin1; Peroxisome biogenesis disorder protein 1; Peroxisome biogenesis factor 1; PEX1; PEX1_HUMAN; ZWS1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 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：
    Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.
  • 基因功能參考文獻(xiàn)：
    1. heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome PMID: 28432012
    2. Major finding is linking peroxisome biogenesis factor 1 (PEX1) to obesity phenotypes, a novel mechanism of peroxisomal biogenesis and metabolism underlying the development of childhood obesity. PMID: 28508493
    3. A combination of a known missense and novel frameshift variant in PEX1 identified in a family with Heimler syndrome. PMID: 27302843
    4. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with Heimler syndrome, patients with sensorineural hearing lossand retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. PMID: 27633571
    5. Our structural data suggest that the tilting of a central segment of a Pex1-Pex6 pair is responsible for polypeptide movement. PMID: 26476099
    6. Mutations in PEX1 gene is associated with Heimler Syndrome. PMID: 26387595
    7. results suggested that peroxisome biogenesis requires Pex1p- and Pex6p-regulated dissociation of Pex14p from Pex26p PMID: 25016021
    8. the variants in PEX genes of a family PMID: 23247051
    9. A 5' UTR polymorphism at position c.-53 and a promoter polymorphism 137 bp upstream of the PEX1 start codon are identified but strongly differing survival By genotype-phenotype analysis. PMID: 21846392
    10. Missense mutations in PEX1 cause the milder forms of the peroxisome biogenesis disorders, whereas insertions, deletions, and nonsense mutations are associated with severe clinical phenotypes. PMID: 12032265
    11. We have evaluated the impact of novel mutations, along with that of the two most common PEX1 mutations, in PBD patients by determining the levels of PEX1 mRNA, PEX1 protein, and peroxisome protein import. PMID: 12402331
    12. complete lack of PEX1 is associated with Zellweger syndrome PMID: 12840548
    13. overview of the currently known PEX1 mutations in Zellweger Syndrome [review] PMID: 16086329
    14. analysis of PEX1 coding mutations and 5' UTR regulatory polymorphisms PMID: 16088892
    15. Molecular confirmation of the clinical and biochemical diagnosis will allow the prediction of the clinical course of disease in individual PBD cases. PMID: 16141001
    16. Insufficient binding to Pex1p x Pex6p complexes, or mislocalization of patient-derived Pex26p mutants is most likely responsible for the complementation group impaired peroxisome biogenesis. PMID: 16257970
    17. Studies provide empirical data to estimate the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX1 gene. PMID: 19105186

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  • 相關(guān)疾病：
    Peroxisome biogenesis disorder complementation group 1 (PBD-CG1); Peroxisome biogenesis disorder 1A (PBD1A); Peroxisome biogenesis disorder 1B (PBD1B); Heimler syndrome 1 (HMLR1)
  • 亞細(xì)胞定位：
    Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes.
  • 蛋白家族：
    AAA ATPase family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 8850

    OMIM: 214100

    KEGG: hsa:5189

    STRING: 9606.ENSP00000248633

    UniGene: Hs.164682



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