Actin, cytoplasmic 2 (ACTG1)

**Actin, cytoplasmic 2 (ACTG1; gamma-actin)** is a highly conserved non-muscle cytoplasmic actin isoform that plays an essential structural and regulatory role in the eukaryotic cell cytoskeleton[1][2]. It forms microfilaments that provide structural support, enable cell shape maintenance, and drive fundamental processes such as motility, intracellular trafficking, and signal transduction[1][2]. Gamma-actin is ubiquitously expressed, but is especially important in non-muscle cells, such as intestinal epithelial and inner ear hair cells, where it is critical for normal hearing and cell integrity[1][3]. In muscle, it is found at costamere and Z-disc structures, contributing to mechanical stability and force transmission[2]. Mutations in ACTG1 disrupt actin polymerization and stability, causing diseases such as autosomal dominant progressive hearing loss (DFNA20/26) and Baraitser-Winter syndrome 2, which manifests as intellectual disability and craniofacial abnormalities[1][2][3]. Though essential to cell physiology and a disease gene, ACTG1 is not a classic druggable therapeutic target (such as a receptor or enzyme), and no direct pharmacologic modulators are clinically available or in common use.

Other names

gamma-actinγ-actinactin gamma 1actin-related protein