Myosin, Slow Skeletal (MYL3) Antibody – Mouse Monoclonal

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. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

MYL3: Regulatory light chain of myosin. Does not bind calcium. Defects in MYL3 are the cause of familial hypertrophic cardiomyopathy type 8 (CMH8). Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH8 inheritance can be autosomal dominant or recessive.

Protein type: Motility/polarity/chemotaxis; Motor

Chromosomal Location of Human Ortholog: 3p21.3-p21.2

Cellular Component: I band; sarcomere; muscle myosin complex; cytosol; A band

Molecular Function: actin monomer binding; structural constituent of muscle; motor activity; myosin II heavy chain binding; calcium ion binding

Biological Process: skeletal muscle development; metabolic process; positive regulation of ATPase activity; regulation of striated muscle contraction; ventricular cardiac muscle morphogenesis; regulation of the force of heart contraction; muscle filament sliding; cardiac muscle contraction

Disease: Cardiomyopathy, Familial Hypertrophic, 8