MLT2

MLT2, also known as MYLK2, is a gene that encodes a protein called myosin light chain kinase 2. This protein is a key enzyme involved in muscle contraction. It phosphorylates myosin light chains, which are regulatory subunits of myosin, a motor protein found in muscle and non-muscle cells. Phosphorylation of myosin light chains by MLT2 leads to changes in the interaction of myosin with actin filaments, ultimately driving the contractile process.

The MLT2 gene is primarily expressed in skeletal muscle, where it plays a crucial role in regulating the force and speed of muscle contractions. It is also found in smooth muscle and has been implicated in various cellular processes beyond muscle contraction, such as cell migration, cytokinesis, and gene regulation.

Mutations in the MLT2 gene have been associated with a number of genetic disorders. One notable example is certain forms of congenital myopathies, a group of rare inherited muscle diseases characterized by muscle weakness and hypotonia present at birth. Research is ongoing to further understand the precise functions of MLT2 and its implications in health and disease.