Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene.
MYL2,also named as MLC-2v and MLC-2,is ventricular/cardiac muscle isoform. Defects in MYL2 are the cause of cardiomyopathy familial hypertrophic type 10 (CMH10). Defects in MYL2 are the cause of cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 2 (MVC2). MYL2 has been widely used as a marker of mature ventricular cardiomyocytes.
Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy.
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