ACTB, Official Symbol ACTBprovided by HGNC Official Full Name actin betaprovided by HGNC Primary source HGNC:HGNC:132 See related Ensembl:ENSG00000075624 MIM:102630; AllianceGenome:HGNC:132 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 BNS; CSMH; DDS1; THC8; BKRNS; BRWS1; PS1TP5BP1 Summary 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] Expression Ubiquitous expression in appendix (RPKM 2395.4), lymph node (RPKM 2072.0) and 24 other tissues See more Orthologs mouse all