P10916 

MYL2, also designated MLC-2 or MLC2v, is part of a hexameric complex of two heavy chains and four light chains predominantly expressed in adult cardiac ventricle muscle. Myosin regulatory light chain 2 binds calcium and has been shown to be a useful molecular marker for cardiac chamber specification. The co-expression of myosin regulatory light chain 7 (MYL7) and myosin regulatory light chain 2 in the outflow tract and atrioventricular canal, together with the single expression in the atrial (MYL7) and ventricular (MYL2) myocardium, permits the delineation of their boundaries. At the amino acid level there is 96% homology between the human and mouse myosin regulatory light chain sequences. Mutations in MYL2 are correlated with mid-left ventricular chamber type hypertrophic cardiomyopathy (MVC2) as well as familial hypertrophic cardiomyopathy type 10 (CMH10).