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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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