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  4. POMK Antibody, FITC conjugated

POMK Antibody, FITC conjugated

  • 中文名稱：
    POMK兔多克隆抗體, FITC偶聯
  • 貨號：
    CSB-PA863985LC01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) POMK Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    POMK
  • 別名：
    FLJ23356 antibody; MDDGA12 antibody; POMK antibody; Probable inactive protein kinase-like protein SgK196 antibody; Protein kinase like protein SgK196 antibody; Protein kinase-like protein SgK196 antibody; Protein O-mannose kinase antibody; SG196_HUMAN antibody; SGK196 antibody; Sugen kinase 196 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Protein O-mannose kinase protein (44-350AA)
  • 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：
    Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.
  • 基因功能參考文獻：
    1. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. PMID: 24925318
    2. Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability. PMID: 24556084
    3. These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy. PMID: 23929950
  • 相關疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12); Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12)
  • 亞細胞定位：
    Endoplasmic reticulum membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Protein kinase superfamily, Ser/Thr protein kinase family, STKL subfamily
  • 組織特異性：
    Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.
  • 數據庫鏈接：

    HGNC: 26267

    OMIM: 615247

    KEGG: hsa:84197

    STRING: 9606.ENSP00000331258

    UniGene: Hs.491646



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