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  4. Recombinant Human FRAS1-related extracellular matrix protein 1 (FREM1), partial

Recombinant Human FRAS1-related extracellular matrix protein 1 (FREM1), partial

  • 中文名稱：
    人FREM1重組蛋白
  • 貨號(hào)：
    CSB-YP686013HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人FREM1重組蛋白
  • 貨號(hào)：
    CSB-EP686013HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人FREM1重組蛋白
  • 貨號(hào)：
    CSB-EP686013HU-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FREM1重組蛋白
  • 貨號(hào)：
    CSB-BP686013HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人FREM1重組蛋白
  • 貨號(hào)：
    CSB-MP686013HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    FREM1
  • Uniprot No.：
  • 別名：
    BC037594; BNAR; C9orf143; C9orf145; C9orf154; D430009N09; D630008K06; FLJ25461; FRAS1-related extracellular matrix protein 1; FREM 1; FREM1; FREM1_HUMAN; Heb; MOTA; Protein QBRICK; QBRICK; RGD1306981; RP11-265B7.2; RP23-410K19.1; TILRR
  • 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)品評價(jià)

靶點(diǎn)詳情

  • 功能：
    Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.
  • 基因功能參考文獻(xiàn)：
    1. we identified genome-wide significant association involving measures of central upper lip height at 9p22 within FREM1 PMID: 28441456
    2. FREM1 expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267
    3. this report describes a patient with a phenotype compatible with Manitoba-oculo-tricho-anal syndrome in whom two novel FREM1 mutations were identified in the compound heterozygous state thus broadening the mutational spectrum of the disease. PMID: 28111185
    4. Disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes. PMID: 23401257
    5. We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice. PMID: 23221805
    6. The significant association of rs1552896 with an HIV-resistant phenotype, together with the expression profile of FREM1 in tissues relevant to HIV infection, suggests that FREM1 is a potentially novel candidate gene for resistance to HIV infection. PMID: 22915813
    7. The location of the IBD region 16 kb from FREM1 suggests the phenotype in Manitoba oculotrichoanal syndrome patients is attributable to a variant outside of FREM1, potentially in a regulatory element. PMID: 22690109
    8. FREM1 encodes a basement membrane protein of FRAS1-related extracellular matrix protein 1 which is required for epidermal adhesion during embryonic development PMID: 22876578
    9. a role for TILRR in selective amplification of NF-kappaB responses through IL-1RI and suggest that the specificity is determined by changes in receptor conformation and adapter protein recruitment. PMID: 22262840
    10. These data suggest that copy number variations and mutations involving FREM1 can be identified in a significant percentage of people with MC with or without midface hypoplasia. PMID: 21931569
    11. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. FREM1 deficiency ties the molecular cause of MOTA syndrome closely to the pathogenesis of Fraser syndrome. PMID: 21507892
    12. TILRR, an isoform encoded by an alternatively spliced FREM1 mRNA, is an IL-1RI co-receptor that associates with the signaling receptor complex to enhance recruitment of MyD88 and control Ras-dependent amplification of NF-kappaB and inflammatory responses. PMID: 19940113
    13. The phenotypic variability reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of bifid nose and anorectal and renal anomalies syndrome in humans may represent a previously unrecognized variant of Fraser syndrome. PMID: 19732862

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  • 相關(guān)疾病：
    Bifid nose, with or without anorectal and renal anomalies (BNAR); Manitoba oculotrichoanal syndrome (MOTA); Trigonocephaly 2 (TRIGNO2)
  • 亞細(xì)胞定位：
    Secreted, extracellular space, extracellular matrix, basement membrane.
  • 蛋白家族：
    FRAS1 family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 23399

    OMIM: 248450

    KEGG: hsa:158326

    STRING: 9606.ENSP00000370262

    UniGene: Hs.50850



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