Total Dok-7 Cell-Based Colorimetric ELISA Kit

  • Catalog No.：KA3775C
  • Applications：ELISA
  • Reactivity：Human;Mouse
    • Gene Name：
    • DOK7
    • Human Swiss Prot No：
    • Q18PE1
    • Mouse Swiss Prot No：
    • Q18PE0
    • Storage Stability：
    • 2-8°C/6 months
    • Other Name：
    • Protein Dok-7 (Downstream of tyrosine kinase 7)
    • Detection Method：
    • Colorimetric
    • Background：
    • disease:Defects in DOK7 are the cause of familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]; also called congenital myasthenic syndrome type 1B or CMS1B. LGM is a congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.,function:Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.,similarity:Contains 1 IRS-type PTB domain.,similarity:Contains 1 PH domain.,subcellular location:Accumulates at neuromuscular junctions.,subunit:Interacts with the cytoplasmic part of MUSK.,tissue specificity:Preferentiall eypressed in skeletal muscle and heart Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).,
    • Subcellular Location：
    • Cell membrane ; Peripheral membrane protein . Cell junction, synapse . Accumulates at neuromuscular junctions. .
    • Expression：
    • Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).

    Attributes

    • Code：
    • KA3775C
    • Size
    • 96 / well
    • Price$：
    • 330
    • Delivery：
    • 2024-12-09
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