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FREM1 Antibody, FITC conjugated

  • 中文名稱:
    FREM1兔多克隆抗體, FITC偶聯
  • 貨號:
    CSB-PA686013LC01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) FREM1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    FREM1
  • 別名:
    BC037594 antibody; BNAR antibody; C9orf143 antibody; C9orf145 antibody; C9orf154 antibody; D430009N09 antibody; D630008K06 antibody; FLJ25461 antibody; FRAS1-related extracellular matrix protein 1 antibody; FREM 1 antibody; FREM1 antibody; FREM1_HUMAN antibody; Heb antibody; MOTA antibody; Protein QBRICK antibody; QBRICK antibody; RGD1306981 antibody; RP11-265B7.2 antibody; RP23-410K19.1 antibody; TILRR antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human FRAS1-related extracellular matrix protein 1 protein (1957-2082AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    FITC
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產品提供形式:
    Liquid
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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

    HGNC: 23399

    OMIM: 248450

    KEGG: hsa:158326

    STRING: 9606.ENSP00000370262

    UniGene: Hs.50850



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