Gene Symbol | ACTB |
Entrez Gene ID | 60 |
Full Name | actin beta |
Synonyms | BRWS1,PS1TP5BP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | ?Dystonia, juvenile-onset, 607371 (3); Baraitser-Winter syndrome 1, 243310 (3) |