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Overview
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Background
Myosins are a large superfamily of motor proteins that move along actin filaments, while hydrolyzing ATP. Myosin is the major component of thick muscle filaments, and is a long asymmetric molecule containing a globular head and a long tail. The molecule consists of two heavy chains and four light chains. Activation of smooth and cardiac muscle primarily involves pathways which increase calcium and myosin phosphorylation resulting in contraction. Myosin light chain phosphatase acts to regulate muscle contraction by dephosphorylating activated myosin light chain. MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Human myosin light chain has clinical application as a cardiac marker. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy.
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