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  4. Recombinant Human Vacuolar protein sorting-associated protein 13B (VPS13B), partial

Recombinant Human Vacuolar protein sorting-associated protein 13B (VPS13B), partial

  • 中文名称：
    人VPS13B重组蛋白
  • 货号：
    CSB-YP801823HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人VPS13B重组蛋白
  • 货号：
    CSB-EP801823HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人VPS13B重组蛋白
  • 货号：
    CSB-EP801823HU-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VPS13B重组蛋白
  • 货号：
    CSB-BP801823HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人VPS13B重组蛋白
  • 货号：
    CSB-MP801823HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    VPS13B
  • Uniprot No.：
    Q7Z7G8
  • 别名：
    CHS1; COH1; Cohen syndrome protein 1; Vacuolar protein sorting 13 homolog B (yeast); Vacuolar protein sorting-associated protein 13B; VP13B_HUMAN; vps13B
  • 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：
    May be involved in protein sorting in post Golgi membrane traffic.
  • 基因功能参考文献：
    1. Here, we present an 11-month-old girl with CS caused by two multi-exonic small deletions in VSP13B in trans. PMID: 28631888
    2. VPS13B mutation is asociated with Cohen syndrome. PMID: 29149870
    3. Novel VPS13B deletion mutations in three large Pakistani Cohen Syndrome families suggests a Baloch variant with Autistic-Like features. PMID: 26104215
    4. This report emphasizes the value of a broad-based whole exome sequencing approach in disease gene identification in the syndromic retinal dystrophies, where all disease characteristics may not be present in young patients to allow a clinical diagnosis. PMID: 25060287
    5. Association of COH1 with the Golgi complex is mediated by its interaction with RAB6 and is required for neurite outgrowth. PMID: 25492866
    6. This observation emphasizes that VPS13B analysis should be performed in cases of congenital neutropenia associated with retinopathy, even in the absence of ID, therefore extending the VPS13B phenotype spectrum. PMID: 24311531
    7. COH1 as a Golgi-associated matrix protein required for Golgi integrity. PMID: 21865173
    8. This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. PMID: 21353197
    9. This study confirms that COH1 copy number variations are a frequent cause of Cohen syndrome and consist of intragenic deletions as well as duplications. PMID: 20461111
    10. VPS13B gene, via affecting bone mineral density and femoral neck cross-sectional geometric parameters, is a novel osteoporosis risk gene. PMID: 19680589
    11. VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years. PMID: 20656880
    12. A mutated gene on chromosome 8q22 found by haplotype analysis in patients with this syndrome. PMID: 12730828
    13. COH1 mutations is associated with Cohen syndrome PMID: 15141358
    14. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome PMID: 15154116
    15. detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families PMID: 17990063
    16. A new deletion in COH1 causing Cohen syndrome was detected in a Greek island population. PMID: 18655112
    17. Mutation analysis of COH1 in twelve novel patients with Cohen syndrome from nine families, was carried out. PMID: 19006247
    18. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome PMID: 19533689

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  • 相关疾病：
    Cohen syndrome (COH1)
  • 蛋白家族：
    VPS13 family
  • 组织特异性：
    Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript
  • 数据库链接：

    HGNC: 2183

    OMIM: 216550

    KEGG: hsa:157680

    STRING: 9606.ENSP00000351346

    UniGene: Hs.191540

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