DOK7

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]

Description

Docking protein 7

Tissue specificity

Tissue enhanced (heart muscle, skeletal muscle)

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

4 (3463306 - 3501473)

Ensembl ID

ENSG00000175920  (ver. 103.38)

Orthologs

Mouse Dok7: ENSMUSG00000044716

UniProt

Q18PE1

neXtProt

NX_Q18PE1

Human splice variants
Mouse splice variants

Protein structure