Actin gamma 1 (ACTG1) (ACTG1)

Actin gamma 1 (ACTG1) is a highly conserved cytoplasmic actin isoform that is essential for maintaining the structural integrity of the cytoskeleton in non-muscle cells (UniProt P63261). It is particularly critical in the inner ear, where it forms the actin core of the hair cell stereocilia, which are necessary for the mechanotransduction of sound (NCBI Gene ID 71). Mutations in the ACTG1 gene locus are associated with autosomal dominant non-syndromic hearing loss (DFNA20/26) and Baraitser-Winter cerebrofrontofacial syndrome, conditions characterized by progressive sensory impairment or developmental anomalies (OMIM 102560). The ACTG1 gene locus and associated transgene cassettes serve as therapeutic targets for gene therapy, where adeno-associated virus (AAV) vectors are employed to deliver functional genetic material to the cochlea. These therapeutic strategies aim to compensate for loss-of-function mutations, thereby preserving the structural stability of hair cells and preventing the progression of deafness (PubMed PMID: 12851453). Beyond the auditory system, ACTG1 is also implicated in cell migration and has been studied for its role in the invasive potential of certain cancer types.

Other names

Gamma-actinACTGDFNA20DFNA26Baraitser-Winter syndrome 2BRWS2ACTG1 gene locusACTG1 transgene

Gene replacement or augmentation therapy designed to deliver a functional copy of the ACTG1 gene to target cells, typically via a viral vector, to restore cytoskeletal stability and cellular function.