ACT

ACT (gene)

The ACT (gene) is a gene that in humans is encoded by the ACT gene. It is located on chromosome 10 and is responsible for the production of the protein actin, which plays a crucial role in muscle contraction and other important cellular processes.

Function

The ACT gene provides instructions for making a protein called actin. Actin is a part of the cytoskeleton, which is a network of protein filaments and tubules that extends throughout the cell. The cytoskeleton gives cells their shape and helps them move and divide. It also transports materials within cells and connects various parts of a cell together.

Actin proteins bind together (polymerize) to form filaments. These filaments interact with another type of protein called myosin to enable muscles to contract. Actin filaments also play a role in cell division, cell signaling, and the maintenance of cell shape.

Clinical significance

Mutations in the ACT gene can lead to a variety of health conditions. For example, they can cause Actin Accumulation Myopathy, a rare genetic disorder characterized by muscle weakness and the accumulation of actin filaments in muscle cells. Mutations can also lead to Baraitser-Winter syndrome, a condition characterized by intellectual disability, distinctive facial features, and abnormalities in the brain.

See also

• Actin
• Cytoskeleton
• Myosin
• Actin Accumulation Myopathy
• Baraitser-Winter syndrome

References

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