MYLK2

MYLK2 is a gene that encodes the myosin light chain kinase 2 protein in humans. This protein plays a crucial role in the regulation of muscle contraction and is involved in various cellular processes.

Function

The MYLK2 gene provides instructions for making a protein called myosin light chain kinase 2. This protein is part of a family of proteins that are involved in muscle contraction. It works by phosphorylating the regulatory light chain of myosin, a protein that interacts with actin to cause muscle contraction. This phosphorylation process is essential for the regulation of muscle contraction and relaxation.

Clinical Significance

Mutations in the MYLK2 gene have been associated with various medical conditions. For instance, some studies have suggested a link between MYLK2 mutations and the development of hypertrophic cardiomyopathy, a condition characterized by the thickening of the heart muscle. However, more research is needed to fully understand the role of MYLK2 in disease development and progression.

See Also

• Myosin light chain kinase
• Muscle contraction
• Hypertrophic cardiomyopathy

References

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