What is the difference between the LAMA2 gene and the laminin alpha-2 protein
LAMA2 is the gene, and laminin alpha-2 is the protein made from the gene. A gene is like a recipe written in your DNA, and the protein is the finished product that recipe builds. The LAMA2 gene carries the instructions for making the laminin alpha-2 protein, which works like a glue or scaffolding that helps hold muscle fibres together and keeps them working properly.
When there’s a change (a mutation) in the LAMA2 gene, the instructions have an error. This means the body makes too little of the laminin alpha-2 protein, or a version that doesn’t work well which causes LAMA2-RD.