Protein Summary
Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574). The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often ...more
- ENST00000420581
- ENSP00000414670
- ENSG00000163380
- ENST00000475434
- ENSP00000418645
- ENST00000489031
- ENSP00000417210
- NEM10
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
cell type or tissue | 0.64 | ||
microRNA | 0.53 | ||
tissue sample | 0.52 | ||
biological process | 0.49 | ||
gene perturbation | 0.47 | ||
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: 19.55 (req: < 5)
Gene RIFs: 6 (req: <= 3)
Antibodies: 39 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 19.55 (req: >= 5)
Gene RIFs: 6 (req: > 3)
Antibodies: 39 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 10
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