Actin, cytoplasmic 2

Actin, cytoplasmic 2 (ACTG1) is a highly conserved protein involved in cell motility and cytoskeletal dynamics across all eukaryotic cells (UniProt: P63261). The protein may contribute to stereocilia repair and maintenance of hearing sensitivity following acoustic damage.

ACTG1 is ubiquitously expressed in tissues throughout the body. UniProt disease associations include autosomal dominant deafness (DFNA20) and Baraitser-Winter syndrome 2, a rare developmental disorder characterized by lissencephaly, intellectual disability, and hearing loss (UniProt: P63261).

In Alzheimer's disease, ACTG1 is downregulated in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of −0.62 (Chaparral AD proteomics). This reduction was observed in a TMT-labeled quantitative proteomics experiment examining four subcellular fractions, suggesting altered cytoskeletal organization may contribute to AD pathology.