Aliases for ACTA1 Gene
External Ids for ACTA1 Gene
Previous HGNC Symbols for ACTA1 Gene
Previous GeneCards Identifiers for ACTA1 Gene
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
GeneCards Summary for ACTA1 Gene
ACTA1 (Actin Alpha 1, Skeletal Muscle) is a Protein Coding gene. Diseases associated with ACTA1 include Myopathy, Scapulohumeroperoneal and Nemaline Myopathy 3. Among its related pathways are G-Beta Gamma Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTC1.
UniProtKB/Swiss-Prot Summary for ACTA1 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.