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  4. Recombinant Human Protein O-mannosyl-transferase 2 (POMT2), partial

Recombinant Human Protein O-mannosyl-transferase 2 (POMT2), partial

  • 货号：
    CSB-YP892459HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP892459HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP892459HU-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：
  • 货号：
    CSB-BP892459HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP892459HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    POMT2
  • Uniprot No.：
  • 别名：
    A830009D15Rik; AW046274; DKFZp686G10254; Dolichyl phosphate mannose protein mannosyltransferase 2 ; Dolichyl-phosphate-mannose--protein mannosyltransferase 2; FLJ22309; LGMD2N; MDDGA2; MDDGB2; MDDGC2; POMT 2; Pomt2; POMT2_HUMAN; Protein O mannosyltransferase 2; Protein O mannosyltransferase; Protein O-mannosyl-transferase 2; Putative protein O mannosyltransferase; rCG_20643
  • 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：
    Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins.
  • 基因功能参考文献：
    1. Muscle biopsy revealed absent alpha-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy PMID: 28980384
    2. POMT2 missense mutation is associated with Cystic kidneys in fetal Walker-Warburg syndrome. PMID: 28815891
    3. Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function. PMID: 24002165
    4. molecular cloning and characterization PMID: 12460945
    5. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome [case reports] PMID: 15894594
    6. Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement. PMID: 17634419
    7. identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype PMID: 17923109
    8. testis POMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from somatic POMT2 PMID: 18490429
    9. In pomt2 mutation in CMD patient(three out of 5) show cerebellar hypoplasia. PMID: 18513969
    10. Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. PMID: 18804929
    11. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation are reported. PMID: 19138766

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  • 相关疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2); Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Glycosyltransferase 39 family
  • 组织特异性：
    Highly expressed in testis; detected at low levels in most tissues.
  • 数据库链接：

    HGNC: 19743

    OMIM: 607439

    KEGG: hsa:29954

    STRING: 9606.ENSP00000261534

    UniGene: Hs.132989