We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Moderate to strong cytoplasmic positivity observed in several prostate, breast and endometrial cancers and few cases of most other cancers.
GENE INFORMATION
Gene name
DOK7 (HGNC Symbol)
Synonyms
C4orf25, Dok-7, FLJ33718, FLJ39137
Description
Docking protein 7 (HGNC Symbol)
Entrez gene summary
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]