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ACTG1

Official Full Name
Actin, gamma 1
Background
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.
Synonyms
ACTG1; actin, gamma 1; ACTG, deafness, autosomal dominant 20; deafness, autosomal dominant 26 , DFNA20, DFNA26; actin, cytoplasmic 2; cytoplasmic 2; N-terminally processed; ACT; ACTB; ACTG; ACTG_HUMAN; Actin; Actin, gamma 1 propeptide; Cytoskeletal gamma actin; Deafness, autosomal dominant 20; Deafness, autosomal dominant 26; DFNA20; DFNA26; Gamma-actin; cytoskeletal gamma-actin; E51, Actg, Actl, AL023024; cytoplasmic; actin, cytoplasmic type 5; type 5; cytoplasmic type 5; gamma 1 propeptide; actin, cytoplasmic, type 5

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