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Genetics Home Reference: your guide to understanding genetic conditions
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ACTB

Reviewed April 2013

What is the official name of the ACTB gene?

The official name of this gene is “actin, beta.”

ACTB is the gene's official symbol. The ACTB gene is also known by other names, listed below.

What is the normal function of the ACTB gene?

The ACTB gene provides instructions for making a protein called beta (β)-actin, which is part of the actin protein family. Proteins in this family are organized into a network of fibers called the actin cytoskeleton, which makes up the structural framework inside cells. There are six types of actin; four are present only in muscle cells, where they are involved in the tensing of muscle fibers (muscle contraction). The other two actin proteins, β-actin and gamma (γ)-actin (produced from the ACTG1 gene), are found in cells throughout the body. These proteins play important roles in determining cell shape and controlling cell movement (motility). Studies suggest that β-actin may also be involved in relaying chemical signals within cells.

How are changes in the ACTB gene related to health conditions?

Baraitser-Winter syndrome - caused by mutations in the ACTB gene

Several mutations in the ACTB gene have been found to cause Baraitser-Winter syndrome, a rare condition that affects the development of the brain, eyes, and other facial features. The known mutations change single protein building blocks (amino acids) in β-actin. The most common mutation replaces the amino acid arginine with the amino acid histidine at protein position 196 (written as Arg196His or R196H). The mutations that cause Baraitser-Winter syndrome alter the function of β-actin, which causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because β-actin is present in cells throughout the body and is involved in many cell activities, problems with its function likely impact many aspects of development. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.

Where is the ACTB gene located?

Cytogenetic Location: 7p22

Molecular Location on chromosome 7: base pairs 5,527,147 to 5,530,600

The ACTB gene is located on the short (p) arm of chromosome 7 at position 22.

The ACTB gene is located on the short (p) arm of chromosome 7 at position 22.

More precisely, the ACTB gene is located from base pair 5,527,147 to base pair 5,530,600 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ACTB?

You and your healthcare professional may find the following resources about ACTB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ACTB gene or gene products?

  • ACTB_HUMAN
  • actin, cytoplasmic 1
  • beta cytoskeletal actin
  • BRWS1
  • PS1TP5-binding protein 1
  • PS1TP5BP1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ACTB?

acids ; actin ; amino acid ; arginine ; cell ; contraction ; cytoskeleton ; gene ; histidine ; mutation ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dugina V, Zwaenepoel I, Gabbiani G, Clément S, Chaponnier C. Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity. J Cell Sci. 2009 Aug 15;122(Pt 16):2980-8. doi: 10.1242/jcs.041970. Epub 2009 Jul 28. (http://www.ncbi.nlm.nih.gov/pubmed/19638415?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/60)
  • Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. (http://www.ncbi.nlm.nih.gov/pubmed/22366783?dopt=Abstract)
  • Su Y, Kondrikov D, Block ER. Beta-actin: a regulator of NOS-3. Sci STKE. 2007 Sep 18;2007(404):pe52. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17878410?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2013
Published: April 17, 2014