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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- LAMA2 gene - Genetics Home Reference
- LAMA2 gene - NCBI
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