[essential] myosin light chain 3(English)
- encodes the ventricular/slow skeletal muscle isoform of the myosin essential light chain (ELC), crucial for stabilizing the myosin head's alpha-helical neck and modulating sarcomeric myosin cross-bridge kinetics. Mutations in this gene cause inherited cardiac conditions, specifically hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy
- cMyBP-C, cTnI, cTnT, HCM, HFrEF, IPHCC, LVH, LVOTO, MLVWT, MVA, MYH7, MYL2, P/LP, TPM1, ACTC1, CMI, DCM, ELC
- Cardiology, Myocyte / muscle, Physiology