ACTG1, Official Symbol ACTG1provided by HGNC Official Full Name actin gamma 1provided by HGNC Primary source HGNC:HGNC:144 See related Ensembl:ENSG00000184009 MIM:102560; AllianceGenome:HGNC:144 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACT; ACTG; DFNA20; DFNA26; HEL-176 Summary Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. 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 all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in ovary (RPKM 1227.2), esophagus (RPKM 970.4) and 25 other tissues See more Orthologs mouse all