LMOD3
Developmental stage
Expressed soon after the start of myoblast differentiation and in skeletal muscle throughout life from at least 14 weeks gestation (at protein level).
Function
Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated, leading to its degradation. Interaction with KLHL40 negatively regulates ubiquitination and degradation.
Sequence Similarities
Belongs to the tropomodulin family.
Tissue Specificity
Expressed in cardiac and at higher levels in skeletal muscles (at protein level).
Cellular localization
- Cytoplasm
- Cytoplasm
- Myofibril
- Sarcomere
- M line
- Cytoplasm
- Myofibril
- Sarcomere
- A band
- Cytoplasm
- Cytoskeleton
- Highly expressed in nonstriated areas of developing myotubes, where it shows a granular cytoplasmic pattern. In sarcomeres, highly expressed in the M band region and, at lower levels, along actin thin filaments. Not detected in Z-disks. In sarcomeres, may be located near, but not at, actin thin filament pointed end.
Alternative names
Leiomodin-3, LMOD3