DOK7 Antibody – Rabbit Polyclonal

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]

DOK7: docking proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. 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. Interacts with the cytoplasmic part of MUSK. Defects in DOK7 are the cause of congenital myasthenic syndrome type 1B or CMS1B. Three isoforms of the human protein are produced by alternative splicing.

Protein type: Activator; Adaptor/scaffold

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: plasma membrane; cell junction; neuromuscular junction

Molecular Function: protein kinase binding; phosphoinositide binding; insulin receptor binding

Biological Process: receptor clustering; neuromuscular junction development

Disease: Myasthenia, Limb-girdle, Familial; Fetal Akinesia Deformation Sequence