myosin light chain kinase-2 (MLCK2, MYLK2, skeletal/cardiac muscle)

Function

• muscle contraction & cardiac function
• phosphorylates a specific serine in the N-terminus of myosin light chain.

Compartment

• cytoplasm
• colocalizes with phosphorylated myosin light chain at myofibril filaments

Expression

expressed in heart, skeletal muscle

Pathology

• defects in MYLK2 are a cause of familial hypertrophic cardiomyopathy

More general terms

• myosin light chain kinase (MLCK, MYLK)

Additional terms

• familial hypertrophic cardiomyopathy, type 1

Database

• OMIM: https://mirror.omim.org/entry/606566
• OMIM: https://mirror.omim.org/entry/192600
• UniProt: http://www.uniprot.org/uniprot/Q9H1R3.html