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  4. Recombinant Human Peroxisome assembly factor 2 (PEX6), partial

Recombinant Human Peroxisome assembly factor 2 (PEX6), partial

  • 中文名稱：
    人PEX6重組蛋白
  • 貨號(hào)：
    CSB-YP618793HU
  • 說(shuō)明書：
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱：
    人PEX6重組蛋白
  • 貨號(hào)：
    CSB-EP618793HU
  • 說(shuō)明書：
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱：
    人PEX6重組蛋白
  • 貨號(hào)：
    CSB-EP618793HU-B
  • 說(shuō)明書：
  • 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PEX6重組蛋白
  • 貨號(hào)：
    CSB-BP618793HU
  • 說(shuō)明書：
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人PEX6重組蛋白
  • 貨號(hào)：
    CSB-MP618793HU
  • 說(shuō)明書：
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    PEX6
  • Uniprot No.：
  • 別名：
    PEX6; PXAAA1; Peroxisome assembly factor 2; PAF-2; Peroxin-6; Peroxisomal biogenesis factor 6; Peroxisomal-type ATPase 1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)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：
    Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. 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. A novel homozygous PEX6 p.Ala94Pro mutation. PMID: 29047053
    2. Overexpression models confirmed that the overrepresentation of the pathogenic PEX6 c.2578T variant compared to wild-type PEX6 c.2578C results in a peroxisome biogenesis defect and thus constitutes the cause of disease in the affected individuals. PMID: 29220678
    3. PEX6 identified as the 6p21 SCABD gene in a family with spinocerebellar ataxia with blindness and deafness. PMID: 26669662
    4. Heimler syndrome is due to four novel and two known missense variants and an 8 bp deletion in PEX6 in five families. PMID: 27302843
    5. the current study revealed novel expression quantitative trait loci (eQTLs) for SNHG5 and PEX6 genes in chromosome 6. Nucleotide substitutions of the eQTLs might be candidate factors for a variety of cancers by regulating expression of the 2 genes. PMID: 28033303
    6. PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly. PMID: 26593283
    7. Mutations in PEX6 gene is associated with Heimler Syndrome. PMID: 26387595
    8. increased incidence of Zellweger syndrome in French-Canadians of Lac-St-Jean region caused by a PEX6 founder mutation PMID: 22894767
    9. hybrid exercise increases expression of eukaryotic translation initiation factor 5A (EIFSA), peroxisomal biogenesis factor 6 (PEX6) and histone cluster 1 H4 (HIST1H4), compared with electrical stimulation alone PMID: 21778671
    10. We identified a total of 77 different mutations in Zellweger syndrome patients of which 47 mutations have not been reported previously, and 14 polymorphic variants. PMID: 19877282
    11. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents PMID: 11873320
    12. the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX6 gene. PMID: 19105186
    13. Leigh syndrome presenting the T8993G mutation in the ATPase 6 gene with variable heteroplasmic loads (44-98%) in a single Tunisian family is a novel finding. PMID: 19433277

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  • 相關(guān)疾?。?/div>
    Peroxisome biogenesis disorder complementation group 4 (PBD-CG4); Peroxisome biogenesis disorder 4A (PBD4A); Peroxisome biogenesis disorder 4B (PBD4B); Heimler syndrome 2 (HMLR2)
  • 亞細(xì)胞定位：
    Cytoplasm. Peroxisome membrane. Cell projection, cilium, photoreceptor outer segment.
  • 蛋白家族：
    AAA ATPase family
  • 組織特異性：
    Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 8859

    OMIM: 601498

    KEGG: hsa:5190

    STRING: 9606.ENSP00000303511

    UniGene: Hs.656425



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