DOK7
docking protein 7
Synonyms:
C4orf25, CMS1B
Species:
Human DOK7 (285489), Mouse Dok7 (231134), Rat Dok7 (305448), cow DOK7 (524590), domestic cat DOK7 (101087477), chicken DOK7 (422875), dog DOK7 (488794), naked mole-rat Dok7 (101725139), sheep DOK7 (101121682), Zebrafish dok7 (557881)
UniProtKB ID:
Gene ID:
- Human(285489) 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]
- Mouse(231134) docking protein 7
- Rat(305448) docking protein 7
- cow(524590) docking protein 7
- domestic cat(101087477) docking protein 7
- chicken(422875) docking protein 7
- dog(488794) docking protein 7
- naked mole-rat(101725139) docking protein 7
- sheep(101121682) docking protein 7
- Zebrafish(557881) docking protein 7
- domestic guinea pig(100717783) docking protein 7
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