MYLK2


Description

The MYLK2 (myosin light chain kinase 2) is a protein-coding gene located on chromosome 20.

MYLK2 is a gene that codes for an enzyme called myosin light chain kinase 2. This enzyme is essential for muscle contraction and is specifically found in adult skeletal muscles. MYLK2 is more active in fast-twitch muscle fibers compared to slow-twitch fibers. It works by binding to a protein called calmodulin, which in turn increases the enzyme's activity and leads to sustained muscle contraction. Mutations in the MYLK2 gene have been linked to a heart condition called midventricular hypertrophic cardiomyopathy.

MYLK2 plays a critical role in regulating muscle contraction and cardiac function. It acts by phosphorylating a specific serine residue within the N-terminal region of myosin light chains, which is essential for the initiation and maintenance of muscle contraction.

MYLK2 is also known as KMLC, MLCK, MLCK2, skMLCK.

Associated Diseases


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