Sequence in raw or FASTA format:
DOK7 docking protein 7 [Homo sapiens (human)]
|Entrez Gene ID||285489|
|Full Name||docking protein 7|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Myasthenia, limb-girdle, familial, 254300 (3); Fetal akinesia
|Homo sapiens (human)||DOK7||NP_775931.3|
|Pan troglodytes (chimpanzee)||DOK7||XP_001174613.2|
|Canis lupus familiaris (dog)||DOK7||XP_005618793.1|
|Bos taurus (cattle)||DOK7||XP_005208279.1|
|Mus musculus (house mouse)||Dok7||NP_766296.1|
|Rattus norvegicus (Norway rat)||Dok7||NP_001123534.1|
|GO:0007528||neuromuscular junction development||IEA|
|GO:0061098||positive regulation of protein tyrosine kinase activity||IDA|
|GO:0005158||insulin receptor binding||IEA|
|GO:0019901||protein kinase binding||IDA|
What is the normal function of the DOK7 gene?
The DOK7 gene provides instructions for making a protein that is necessary for the formation of connections between nerve cells and muscle cells, which occur in the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement. The Dok-7 protein participates in turning on (activating) a protein called MuSK that plays a key role in organizing the various proteins important for the development and maintenance of the neuromuscular junction. In particular, the MuSK protein is involved in concentrating a protein called the acetylcholine receptor (AChR) in the muscle membrane at the neuromuscular junction." The AChR protein is critical for signaling between nerve and muscle cells, which is necessary for movement.
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