DOK7

DOK7

A gene on chromosome 4p16.3 that encodes a putative muscle-intrinsic autophosphorylating activator of MUSK which plays an essential role in neuromuscular synaptogenesis, triggering acetylcholine receptor (AchR) clustering in myotubes. It is expressed in skeletal muscle and the heart.

Molecular pathology
Defects in DOK7 cause familial limb-girdle myasthenia.
References in periodicals archive ?
We have noted that when one of the proteins we study, DOK7, is produced at high levels in muscles is generates greatly enlarged synapses in their correct location, which we call 'super synapses'.
Currently, gene defects that influence the development and maintenance of NMJ are assigned to a separate group of the CMS and rank second in the disease causes following defects of the acetylcholine receptors (AChRs).[sup][2] These genes include RAPSN , DOK7 , LRP4 , MUSK , and AGRN .[sup][3],[4] Agrin, encoded by AGRN , is a cell-specific heparan sulfate proteoglycan generated by alternative splicing.