Leiomodin 1

Leiomodin 1 (Lmod1) is a protein that in humans is encoded by the LMOD1 gene. It is a member of the Leiomodin family of proteins, which are involved in actin filament assembly. Mutations in this gene have been associated with nemaline myopathy, a rare type of muscle disease.

Function

Leiomodin 1 is an actin-binding protein that plays a crucial role in the organization of sarcomeres, the basic unit of muscle contraction. It is predominantly expressed in smooth muscle tissues, where it promotes the rapid assembly and bundling of actin filaments.

Clinical significance

Mutations in the LMOD1 gene can lead to nemaline myopathy, a disorder characterized by muscle weakness and hypotonia. This condition is typically present from birth and can affect various muscle groups, including those involved in breathing and swallowing.

Structure

The LMOD1 protein consists of an N-terminal WH2 domain, a coiled-coil region, and a C-terminal Leucine-rich repeat (LRR) domain. The WH2 domain binds to actin monomers, while the coiled-coil region and LRR domain are involved in protein-protein interactions.

See also

• Leiomodin
• Nemaline myopathy
• Actin filament
• Sarcomere

External links

• LMOD1 at the National Center for Biotechnology Information
• LMOD1 at the Genetics Home Reference