Entity Details
| Primary name |
LMOD3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q0VAK6 |
| EntryName | LMOD3_HUMAN |
| FullName | Leiomodin-3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 560 |
| SequenceStatus | complete |
| DateCreated | 2006-11-28 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR004934 | Tropomodulin | Family | Family |
| IPR030131 | Leiomodin-3 | Family | Family |
| IPR032675 | Leucine-rich repeat domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 616165 | OMIM | Nemaline myopathy 10 (NEM10) | An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions