Docking Protein 7 (DOK7)

C4orf25; Downstream of tyrosine kinase 7

SPN	R421
HGNC	26594
MGI	3584043
PubMed	20603078
RGD	1566416
UniProt	Q18PE1
Wiki	Dok-7

DOK7 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. DOK7 contains a pleckstrin homology (PH) and PTB domain in the N-terminal portion and Src homology 2 (SH2) domain target motifs in the C-terminal region. Cloning of mouse and pufferfish Dok7 cDNA revealed a highly conserved structure.

Reference

"The muscle protein Dok-7 is essential for neuromuscular synaptogenesis."
Science 312:1802-1805(2006) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization."
Mol. Cell 39:100-109(2010) [PubMed] [Europe PMC] [Abstract]

"Dok-7 mutations underlie a neuromuscular junction synaptopathy."
Science 313:1975-1978(2006) [PubMed] [Europe PMC] [Abstract]

"Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes."
Brain 130:1497-1506(2007) [PubMed] [Europe PMC] [Abstract]

"Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7."
J. Neurol. 257:754-766(2010) [PubMed] [Europe PMC] [Abstract]

"The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome."
Hum. Mol. Genet. 21:3765-3775(2012) [PubMed] [Europe PMC] [Abstract]