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ABCA1

Reviewed June 2006

What is the official name of the ABCA1 gene?

The official name of this gene is “ATP-binding cassette, sub-family A (ABC1), member 1.”

ABCA1 is the gene's official symbol. The ABCA1 gene is also known by other names, listed below.

What is the normal function of the ABCA1 gene?

The ABCA1 gene belongs to a group of genes called the ATP-binding cassette family, which provides instructions for making proteins that transport molecules across cell membranes. The ABCA1 protein is produced in many tissues, but especially in the liver and in immune system cells called macrophages. This protein moves cholesterol and other types of fats, known as phospholipids, across the cell membrane to the outside of the cell. These substances are then picked up by a protein called apolipoprotein A1 (apoA1) that circulates in the bloodstream. ApoA1 is used to make high-density lipoproteins (HDL), often referred to as "good cholesterol." High-density lipoproteins carry cholesterol from the body's tissues to the liver for elimination through bile, a yellow substance made by the liver that aids in the digestion of fats. The process of removing excess cholesterol from the cells and transporting it to the liver for removal is extremely important for the balance (homeostasis) of cholesterol and the health of the heart and blood vessels (cardiovascular health).

Does the ABCA1 gene share characteristics with other genes?

The ABCA1 gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPase superfamily).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ABCA1 gene related to health conditions?

Tangier disease - caused by mutations in the ABCA1 gene

More than 30 mutations that cause Tangier disease have been identified in the ABCA1 gene. Almost all of these mutations substitute one amino acid (a protein building block) for another amino acid in the ABCA1 protein. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by ApoA1 in the bloodstream. This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor for cardiovascular disease. Additionally, the buildup of cholesterol in cells can be toxic, causing cell death or impaired function. These combined factors lead to the signs and symptoms of Tangier disease.

other disorders - caused by mutations in the ABCA1 gene

Mutations in the ABCA1 gene are also responsible for a condition called familial high-density lipoprotein deficiency or hypoalphalipoproteinemia. People affected by familial high-density lipoprotein deficiency have reduced levels of high-density lipoproteins in their blood, but do not accumulate cholesterol inside their cells as is seen in Tangier disease. People with this disorder may experience premature cardiovascular disease, however.

Where is the ABCA1 gene located?

Cytogenetic Location: 9q31.1

Molecular Location on chromosome 9: base pairs 106,583,103 to 106,730,256

The ABCA1 gene is located on the long (q) arm of chromosome 9 at position 31.1.

The ABCA1 gene is located on the long (q) arm of chromosome 9 at position 31.1.

More precisely, the ABCA1 gene is located from base pair 106,583,103 to base pair 106,730,256 on chromosome 9.

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 ABCA1?

You and your healthcare professional may find the following resources about ABCA1 helpful.

  • Educational resources - Information pages
    The Human ATP-Binding Cassette (ABC) Transporter Superfamily (NCBI) (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mono_001&partid=31#A137)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(ABCA1[TIAB])+AND+((Genes[MH])+OR+(Genetic+Phenomena[MH]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=720+Days)
  • OMIM - Genetic disorder catalog
    • OMIM: ABCA1 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046)
    • OMIM: Hypoalphalipoproteinemia (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604091)
  • Research Resources - Tools for researchers
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/19)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp?ABCA1)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=29)

What other names do people use for the ABCA1 gene or gene products?

  • ABC1
  • ABCA1_HUMAN
  • ATP-binding cassette 1
  • ATP binding cassette transporter 1
  • CERP
  • cholesterol efflux regulatory protein
  • FLJ14958
  • HDLDT1
  • high density lipoprotein deficiency, Tangier type, 1
  • TGD

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 ABCA1?

acids ; amino acid ; apolipoprotein ; ATP ; bile ; cardiovascular ; cell ; cell membrane ; cholesterol ; deficiency ; digestion ; familial ; gene ; HDL ; high density lipoproteins ; homeostasis ; immune system ; lipoprotein ; macrophage ; molecule ; mutation ; protein ; risk factors ; sign ; symptom ; tissue ; toxic

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

References
  • Albrecht C, Viturro E. The ABCA subfamily-gene and protein structures, functions and associated hereditary diseases. Pflugers Arch. 2006 Apr 4; [Epub ahead of print]. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16586097)
  • Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, Drobnik W, Barlage S, Buchler C, Porsch-Ozcurumez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999 Aug;22(4):347-51. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10431237)
  • Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999 Aug;22(4):336-45. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10431236)
  • Brunham LR, Kruit JK, Iqbal J, Fievet C, Timmins JM, Pape TD, Coburn BA, Bissada N, Staels B, Groen AK, Hussain MM, Parks JS, Kuipers F, Hayden MR. Intestinal ABCA1 directly contributes to HDL biogenesis in vivo. J Clin Invest. 2006 Apr;116(4):1052-62. Epub 2006 Mar 16. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16543947)
  • Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001 Jul;11(7):1156-66. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11435397)
  • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/19)
  • Hayden MR, Clee SM, Brooks-Wilson A, Genest J Jr, Attie A, Kastelein JJ. Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. Curr Opin Lipidol. 2000 Apr;11(2):117-22. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10787172)
  • Kolovou GD, Mikhailidis DP, Anagnostopoulou KK, Daskalopoulou SS, Cokkinos DV. Tangier disease four decades of research: a reflection of the importance of HDL. Curr Med Chem. 2006;13(7):771-82. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16611066)
  • Lawn RM, Wade DP, Garvin MR, Wang X, Schwartz K, Porter JG, Seilhamer JJ, Vaughan AM, Oram JF. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest. 1999 Oct;104(8):R25-31. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10525055)
  • Neufeld EB, Stonik JA, Demosky SJ Jr, Knapper CL, Combs CA, Cooney A, Comly M, Dwyer N, Blanchette-Mackie J, Remaley AT, Santamarina-Fojo S, Brewer HB Jr. The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. J Biol Chem. 2004 Apr 9;279(15):15571-8. Epub 2004 Jan 27. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14747463)
  • OMIM: ABCA1 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046)
  • Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denefle P, Assmann G. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet. 1999 Aug;22(4):352-5. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10431238)
  • Wang N, Silver DL, Thiele C, Tall AR. ATP-binding cassette transporter A1 (ABCA1) functions as a cholesterol efflux regulatory protein. J Biol Chem. 2001 Jun 29;276(26):23742-7. Epub 2001 Apr 17. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11309399)
  • Young SG, Fielding CJ. The ABCs of cholesterol efflux. Nat Genet. 1999 Aug;22(4):316-8. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10431227)

 

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: June 2006
Published: January 23, 2009