MYLK2

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq]

Full Name

myosin light chain kinase 2

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.

Biological Process

Cardiac muscle contraction Source: BHF-UCL
Cardiac muscle tissue morphogenesis Source: BHF-UCL
Neuromuscular synaptic transmission Source: Ensembl
Peptidyl-threonine phosphorylation Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Protein autophosphorylation Source: UniProtKB
Regulation of muscle filament sliding Source: BHF-UCL
Skeletal muscle cell differentiation Source: UniProtKB
Skeletal muscle satellite cell differentiation Source: Ensembl
Striated muscle contraction Source: BHF-UCL

Cellular Location

Cytoplasm
Note: Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.

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.