Aliases for ACTB Gene
External Ids for ACTB Gene
Previous GeneCards Identifiers for ACTB Gene
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
GeneCards Summary for ACTB Gene
ACTB (Actin Beta) is a Protein Coding gene. Diseases associated with ACTB include Dystonia, Juvenile-Onset and Baraitser-Winter Syndrome 1. 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 RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is ACTG1.
UniProtKB/Swiss-Prot for ACTB 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.