MYLK3

MYLK3 is a gene that encodes the myosin light chain kinase 3 protein in humans. This protein is a member of the myosin light chain kinase family, which plays a crucial role in muscle contraction. The MYLK3 gene is located on the long (q) arm of chromosome 16 at position 13.3.

Function

The MYLK3 gene provides instructions for making a protein called myosin light chain kinase 3. This protein is found in the cardiac muscle cells, where it plays a key role in the contraction and relaxation of the muscle. It does this by phosphorylating the regulatory light chain of myosin, a protein involved in muscle contraction.

Clinical significance

Mutations in the MYLK3 gene have been associated with hypertrophic cardiomyopathy, a condition characterized by thickening of the heart muscle. This can lead to heart failure and sudden death. Research is ongoing to understand the exact role of MYLK3 in this condition and to develop potential treatments.

See also

• Myosin light chain kinase
• Hypertrophic cardiomyopathy
• Chromosome 16