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docking protein 7(DOK7) Homo sapiens The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009],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).,
研究领域
