Protein Summary
Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. 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]
- ENST00000340083
- ENSP00000344432
- ENSG00000175920
- ENST00000507039
- ENSP00000423614
- C4orf25
- CMS10
- CMS1B
- C4orf25
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
cell type or tissue | 0.9 | ||
interacting protein | 0.68 | ||
transcription factor perturbation | 0.61 | ||
tissue | 0.58 | ||
tissue sample | 0.58 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 89.57 (req: < 5)
Gene RIFs: 32 (req: <= 3)
Antibodies: 372 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 89.57 (req: >= 5)
Gene RIFs: 32 (req: > 3)
Antibodies: 372 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 3
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0