protein Dok-7 (downstream of tyrosine kinase 7, DOK7, C4orf25)

Function

• muscle-intrinsic activator of MUSK (putative)
• role in neuromuscular synaptogenesis
• role in aneural activation of MUSK & subsequent acetylcholine receptor (AchR) clustering in myotubes
• induces autophosphorylation of MUSK
• interacts with the cytoplasmic part of MUSK

Structure

• contains 1 IRS-type PTB domain
• contains 1 PH domain

Compartment

• peripheral membrane
• accumulates at neuromuscular junctions

Alternative splicing

named isoforms=3

Expression

• preferentially eypressed in skeletal muscle & heart
• present in thigh muscle, diaphragm & heart but not in liver or spleen (at protein level)

Pathology

• defects in DOK7 are a cause of autosomal recessive congenital myasthenic syndrome (CMS)

More general terms

• membrane protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q18PE1.html