Merosin

Merosin is a protein that in humans is encoded by the LAMA2 gene. It is an integral component of the basement membrane in muscle tissue. Merosin is also known as Laminin-2 and is a member of the laminin family of proteins, which are an essential part of the structural scaffolding in almost all tissues.

Structure

Merosin is a heterotrimeric protein, composed of three different chains: alpha, beta, and gamma. The alpha chain is encoded by the LAMA2 gene. The protein's structure allows it to form a network of proteins and other molecules that help to maintain the structure and function of muscle tissue.

Function

Merosin is involved in the anchoring of muscle cells to the extracellular matrix, which is crucial for the structural integrity of muscle tissue. It also plays a role in signal transduction, influencing cell differentiation, migration, and survival.

Clinical significance

Mutations in the LAMA2 gene can lead to a deficiency of merosin, which is associated with Merosin-deficient congenital muscular dystrophy (MDC1A). This is a severe form of muscular dystrophy characterized by muscle weakness and wasting, as well as other symptoms such as contractures and respiratory problems.

See also

• Laminin
• Muscular dystrophy
• Congenital muscular dystrophy

External links

• LAMA2 gene - Genetics Home Reference
• LAMA2 gene - NCBI

Merosin Resources
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