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Genetics Home Reference: your guide to understanding genetic conditions
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ABC gene family

Reviewed November 2012

What are the ABC genes?

Genes in the ATP-binding cassette (ABC) family provide instructions for making transporter proteins that carry many types of molecules, such as fats, sugars, protein building blocks (amino acids) and drugs, across cell membranes. In most cases, the transporters move the molecules into specific cell compartments so they can be processed, or out of the cell so they can be used elsewhere or excreted from the body. If the molecules are not transported properly, they may be unavailable where they are needed for body functions. The molecules can also build up over time and damage the cells.

ABC transporter proteins are made in many tissues of the body, and use energy from a molecule called ATP to move substances across the cell membranes. They are grouped together because they all have common structures (domains) that bind to ATP. Most of the genes in this family are designated by the letters ABC and an additional letter indicating the subgroup to which they belong. The subgroup designation is based on their structure and similarity to other transporters in the family. They also receive a number to designate the specific gene within the subgroup, for example ABCA12.

Which genes are included in the ABC gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the ABC family (http://www.genenames.org/genefamily/abc.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the ABC gene family: ABCA1, ABCA3, ABCA4, ABCA12, ABCB4, ABCB7, ABCB11, ABCC2, ABCC6, ABCC8, ABCC9, ABCD1, ABCG5, ABCG8, and CFTR.

What conditions are related to genes in the ABC gene family?

Genetics Home Reference includes these conditions related to genes in the ABC gene family:

  • age-related macular degeneration
  • benign recurrent intrahepatic cholestasis
  • Cantú syndrome
  • congenital bilateral absence of the vas deferens
  • congenital hyperinsulinism
  • cystic fibrosis
  • Dubin-Johnson syndrome
  • familial dilated cardiomyopathy
  • familial HDL deficiency
  • harlequin ichthyosis
  • hereditary pancreatitis
  • intrahepatic cholestasis of pregnancy
  • lamellar ichthyosis
  • permanent neonatal diabetes mellitus
  • progressive familial intrahepatic cholestasis
  • pseudoxanthoma elasticum
  • retinitis pigmentosa
  • sitosterolemia
  • Stargardt macular degeneration
  • surfactant dysfunction
  • Tangier disease
  • X-linked adrenoleukodystrophy
  • X-linked sideroblastic anemia and ataxia

Where can I find additional information about the ABC gene family?

You may find the following resources about the ABC gene family helpful.

  • The Human ATP-Binding Cassette (ABC) Transporter Superfamily (http://www.ncbi.nlm.nih.gov/books/NBK3/)

What glossary definitions help with understanding the ABC gene family?

acids ; ATP ; cell ; fibrosis ; gene ; molecule ; protein ; transmembrane

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

References

These sources were used to develop the Genetics Home Reference summary for the ABC gene family.

  • Biochemistry (fifth edition, 2002) Multidrug Resistance and Cystic Fibrosis Highlight a Family of Membrane Proteins with ATP-Binding Cassette Domains (http://www.ncbi.nlm.nih.gov/books/NBK22411/) (U.S. National Library of Medicine)
  • Molecular Biology of the Cell (fourth edition, 2002): ABC Transporters Constitute the Largest Family of Membrane Transport Proteins (http://www.ncbi.nlm.nih.gov/books/NBK26896/) (U.S. National Library of Medicine)
  • Dean M. The genetics of ATP-binding cassette transporters. Methods Enzymol. 2005;400:409-29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16399363?dopt=Abstract)
  • Schuierer MM, Langmann T. Molecular diagnosis of ATP-binding cassette transporter-related diseases. Expert Rev Mol Diagn. 2005 Sep;5(5):755-67. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16149878?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: November 2012
Published: December 22, 2014