{"symbol":"ACTB","synonyms":["PS1TP5BP1","BRWS1"],"name":"actin, beta","description":"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]","ncbiEntrezGeneId":60,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/60","proteins":[{"symbol":"ACTB_HUMAN","href":"/api/1.0/protein/ACTB_HUMAN"}],"hgncRootFamilies":[{"name":"Actins (ACT)","href":"/api/1.0/gene_family/Actins+%28ACT%29"}]}