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Recombinant Human Transmembrane O-methyltransferase (LRTOMT)

  • 中文名称：
    人LRTOMT重组蛋白
  • 货号：
    CSB-CF837882HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    LRTOMT
  • Uniprot No.：
  • 别名：
    TOMT; COMT2; LRTOMT; PP7517; Transmembrane O-methyltransferase; Catechol O-methyltransferase 2; Protein LRTOMT2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-291
  • 氨基酸序列
    MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLL VRTVLLRSLRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKG QILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAG FDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATV LADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG
    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：
    Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Required for auditory function. Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity.
  • 基因功能参考文献：
    1. Results indicate that mutations in the LRT)MT gene lead to alterations in the LRTOMT2 protein and might be involved in progressive sensorineural hearing loss. PMID: 25788562
    2. LRTOMT gene is the second cause of congenital hearing impairment in Moroccan patients. PMID: 23053991
    3. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. PMID: 21739586
    4. A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. PMID: 17066295
    5. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. PMID: 17166180
    6. The locus associated with ARNSHI PMID: 17211611
    7. nonsense mutation in the human ortholog of the murine Comt2 gene that causes nonsyndromic deafness PMID: 18794526
    8. Mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. PMID: 18953341

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  • 相关疾病：
    Deafness, autosomal recessive, 63 (DFNB63)
  • 亚细胞定位：
    [Isoform 1]: Membrane; Single-pass membrane protein.; [Isoform 2]: Cytoplasm. Endoplasmic reticulum.
  • 蛋白家族：
    Class I-like SAM-binding methyltransferase superfamily, Cation-dependent O-methyltransferase family
  • 数据库链接：

    HGNC: 25033

    OMIM: 611451

    KEGG: hsa:220074

    STRING: 9606.ENSP00000305742

    UniGene: Hs.317243