LMP-1

Leiomodin 3
Identifiers
Symbol	?
NCBI gene	130541
HGNC	19166
OMIM	615223
RefSeq	NM_198271
UniProt	Q6P5Q4
Search for Structures Swiss-model Domains InterPro

Leiomodin 3 (LMOD3) is a protein encoded by the LMOD3 gene in humans. It is a member of the leiomodin family of proteins, which are known to play a crucial role in the regulation of actin filament dynamics. LMOD3 is specifically expressed in skeletal muscle tissue and is essential for proper muscle function and development.

Structure

The LMOD3 protein contains several key domains that are critical for its function. These include the actin-binding domain, which allows LMOD3 to interact with actin filaments, and the tropomyosin-binding domain, which facilitates its role in muscle contraction. The protein structure is highly conserved across different species, indicating its importance in muscle physiology.

Function

LMOD3 is involved in the regulation of actin filament assembly in muscle cells. It acts as a nucleator, promoting the formation of new actin filaments, which are essential for muscle contraction and stability. LMOD3 works in conjunction with other proteins such as tropomyosin and tropomodulin to ensure the proper organization and function of the actin cytoskeleton in muscle fibers.

Clinical Significance

Mutations in the LMOD3 gene have been associated with a rare congenital myopathy known as nemaline myopathy. This condition is characterized by muscle weakness, hypotonia, and the presence of rod-like structures called nemaline bodies in muscle fibers. Patients with LMOD3-related nemaline myopathy often present with severe symptoms and may require supportive care to manage respiratory and feeding difficulties.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which LMOD3 regulates actin dynamics and contributes to muscle function. Studies using animal models and cell cultures aim to elucidate the pathways involved in LMOD3-related myopathies and to develop potential therapeutic strategies.

Also see

• Actin
• Tropomyosin
• Tropomodulin
• Nemaline myopathy
• Muscle contraction