MYLK
MYLK refers to a gene family that encodes myosin light chain kinase (MLCK), a calcium/calmodulin-dependent serine/threonine kinase that phosphorylates the regulatory light chain of myosin II, enabling actomyosin contraction. In humans, the MYLK locus produces multiple kinase isoforms through alternative promoters and splicing, including long MLCK (MLCK-L) and nonmuscle MLCK (nmMLCK). A skeletal-muscle–specific member is encoded by the related MYLK2 gene; transcription from MYLK can also yield a smaller regulatory protein known as telokin in some tissues.
MLCK is activated by Ca2+-bound calmodulin. Once active, it phosphorylates the regulatory light chain of myosin
Physiologically, MLCK drives smooth muscle contraction that controls vascular and airway tone, gastrointestinal motility, and other
Genetic and clinical relevance: variants in MYLK have been linked to familial thoracic aortic aneurysm and