ACTG2 : actin gamma 2, smooth muscle
Understanding the ACTG2 Gene: The Protein Behind Muscle Contraction and Cell Movement
Description
The ACTG2 gene is responsible for the production of gamma (γ)-2 actin, a protein that plays a crucial role in muscle contraction and cell movement. Gamma-2 actin forms part of the actin protein family, which organizes into filaments that are essential for the structure and functioning of our cells. These filaments are not only involved in the contraction of muscle fibers but also maintain the cytoskeleton, the scaffolding that determines cell shape and organization.
Associated Diseases
Mutations in the ACTG2 gene can lead to a condition called ACTG2-related myopathy. This rare genetic disorder affects the smooth muscle cells lining our internal organs, such as the urinary and intestinal tracts. Smooth muscles contract and relax without conscious control, enabling functions like urination and digestion. ACTG2-related myopathy impairs the contraction of these smooth muscles, leading to difficulties with bladder emptying and intestinal motility.
Did you Know ?
Actin proteins, including gamma-2 actin, are among the most abundant proteins in our bodies. They are found in almost every cell and tissue, highlighting their fundamental role in cellular processes.
