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| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1824957
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1824957
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|---|---|
| Preferred Name | docking protein 7 |
| Definitions |
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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| Synonyms |
DOK7_HUMAN
CMS1B
Dok-7
downstream of tyrosine kinase 7
DOK7
C4orf25
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
DOK7_HUMAN
CMS1B
Dok-7
downstream of tyrosine kinase 7
DOK7
C4orf25
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| prefLabel | docking protein 7
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| DB XR ID | NCBI Gene:285489~OMIM:610285
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1824957
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| Semantic type UMLS property | |
| cui | C1824957
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