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  4. Recombinant Human Interferon-induced transmembrane protein 5 (IFITM5)

Recombinant Human Interferon-induced transmembrane protein 5 (IFITM5)

  • 中文名称：
    人IFITM5重组蛋白
  • 货号：
    CSB-CF011028HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    IFITM5
  • Uniprot No.：
  • 别名：
    IFITM5; Interferon-induced transmembrane protein 5; Bone-restricted interferon-induced transmembrane protein-like protein; BRIL; Dispanin subfamily A member 1; DSPA1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-132
  • 氨基酸序列
    MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFSTLYLNLCCLGFLALAYS IKARDQKVVGDLEAARRFGSKAKCYNILAAMWTLVPPLLLLGLVVTGALHLARLAKDSAA FFSTKFDDADYD
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Required for normal bone mineralization.
  • 基因功能参考文献：
    1. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect. PMID: 24478195
    2. The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients. PMID: 23977282
    3. The IFITM5 5' UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family. PMID: 24674092
    4. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation. PMID: 23408678
    5. Recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. PMID: 23813632
    6. IFITM5 mutation is associated with Osteogenesis imperfecta type V. PMID: 23804581
    7. study demonstrates the presence of a recurrent IFITM5 mutation in a population of patients with osteogenesis imperfecta type V; even though the disease-causing mutation is identical among patients, the interindividual phenotypic variability is considerable PMID: 23240094
    8. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. PMID: 22863190
    9. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. PMID: 22863195

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  • 相关疾病：
    Osteogenesis imperfecta 5 (OI5)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    CD225/Dispanin family
  • 组织特异性：
    Detected in bone. Detected in osteoblasts and fibroblasts (at protein level). Detected in bone. Detected in osteoblasts and fibroblasts.
  • 数据库链接：

    HGNC: 16644

    OMIM: 610967

    KEGG: hsa:387733

    STRING: 9606.ENSP00000372059

    UniGene: Hs.443469