Aliases for ACTG1 Gene
External Ids for ACTG1 Gene
Previous HGNC Symbols for ACTG1 Gene
Previous GeneCards Identifiers for ACTG1 Gene
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]
GeneCards Summary for ACTG1 Gene
ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Baraitser-Winter Syndrome 2 and Deafness, Autosomal Dominant 20/26. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Development Slit-Robo signaling. GO annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTB.
UniProtKB/Swiss-Prot for ACTG1 Gene
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.