MYLK2
Function
Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.
Involvement in disease
Cardiomyopathy, familial hypertrophic
CMH
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Tissue Specificity
Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.
Cellular localization
- Cytoplasm
- Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.
Alternative names
MLCK2, MYLK2