Reviewed May 2012
What is the official name of the ABCC6 gene?
The official name of this gene is “ATP-binding cassette, sub-family C (CFTR/MRP), member 6.”
ABCC6 is the gene's official symbol. The ABCC6 gene is also known by other names, listed below.
What is the normal function of the ABCC6 gene?
The ABCC6 gene provides instructions for making a protein called multidrug resistance-associated protein 6 (MRP6, also known as the ABCC6 protein). This protein is found primarily in the liver and kidneys, with small amounts in other tissues such as the skin, stomach, blood vessels, and eyes. The MRP6 protein belongs to a group of proteins that transport molecules across cell membranes.
Little is known about the function of the MRP6 protein or the substances it transports. This protein, or the substances it transports, may play a role in the activities of connective tissue, the material that provides strength and flexibility to structures throughout the body. Some researchers suggest that substances transported by the MRP6 protein help to regulate the amount of calcium and other minerals that are deposited in certain tissues in a process called mineralization.
Does the ABCC6 gene share characteristics with other genes?
The ABCC6 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 ABCC6 gene related to health conditions?
- pseudoxanthoma elasticum - caused by mutations in the ABCC6 gene
More than 200 ABCC6 gene mutations that cause pseudoxanthoma elasticum have been identified. Pseudoxanthoma elasticum is a condition characterized by abnormal accumulation of calcium and other minerals (mineralization) in elastic fibers, a component of connective tissues that provide strength and flexibility to structures throughout the body. The ABCC6 gene mutations lead to an absence of MRP6 protein or an altered protein that does not function properly. The most common mutation in the United States, found in about 28 percent of people with pseudoxanthoma elasticum, deletes part of the ABCC6 gene. (This mutation is written as Ex23_29del.)
It is unclear how ABCC6 gene mutations lead to the signs and symptoms of pseudoxanthoma elasticum, particularly the abnormalities in elastic fibers. Lack of functional MRP6 protein may disrupt the transport of particular substances into the blood for distribution to other parts of the body. Without these substances, normal activities in connective tissue, such as the assembly of elastic fibers, may be impaired. Another possibility is that disrupted transport reduces levels of substances that normally inhibit mineralization of elastic fibers. As a result, calcium and other minerals may accumulate in elastic fibers of tissues affected by pseudoxanthoma elasticum.
Where is the ABCC6 gene located?
Cytogenetic Location: 16p13.1
Molecular Location on chromosome 16: base pairs 16,243,421 to 16,317,327
The ABCC6 gene is located on the short (p) arm of chromosome 16 at position 13.1.
More precisely, the ABCC6 gene is located from base pair 16,243,421 to base pair 16,317,327 on chromosome 16.
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 ABCC6?
You and your healthcare professional may find the following resources about ABCC6 helpful.
Educational resources - Information pages
- Basic Neurochemistry Molecular, Cellular, and Medical Aspects (sixth edition, 1999): ATP-Binding Cassette Proteins (http://www.ncbi.nlm.nih.gov/books/NBK28007/)
- 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/)
- The Human ATP-Binding Cassette (ABC) Transporter Superfamily (2002): ABCC6 (http://www.ncbi.nlm.nih.gov/books/NBK31/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1113/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ABCC6 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=368%5Bgeneid%5D)
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/pubmed?term=(ABCC6%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/603234)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ABCC6.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/368)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=368)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=57)
What other names do people use for the ABCC6 gene or gene products?
- anthracycline resistance-associated
- multidrug resistance-associated protein 6
- multispecific organic anion transporter-E
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 ABCC6?
connective tissue ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15243491?dopt=Abstract)
- Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):228-31. (http://www.ncbi.nlm.nih.gov/pubmed/10835643?dopt=Abstract)
- Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005 Dec;42(12):881-92. Epub 2005 May 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15894595?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/368)
- Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Götting C. Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem. 2006 Feb;52(2):227-34. Epub 2005 Dec 29. (http://www.ncbi.nlm.nih.gov/pubmed/16384891?dopt=Abstract)
- Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet. 2003 Mar;11(3):215-24. (http://www.ncbi.nlm.nih.gov/pubmed/12673275?dopt=Abstract)
- Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol. 2003 Jul-Aug;48(4):424-38. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12850230?dopt=Abstract)
- Iliás A, Urbán Z, Seidl TL, Le Saux O, Sinkó E, Boyd CD, Sarkadi B, Váradi A. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem. 2002 May 10;277(19):16860-7. Epub 2002 Mar 5. (http://www.ncbi.nlm.nih.gov/pubmed/11880368?dopt=Abstract)
- Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413. Am J Hum Genet 2002 Aug;71(2):448. (http://www.ncbi.nlm.nih.gov/pubmed/11536079?dopt=Abstract)
- Matsuzaki Y, Nakano A, Jiang QJ, Pulkkinen L, Uitto J. Tissue-specific expression of the ABCC6 gene. J Invest Dermatol. 2005 Nov;125(5):900-5. (http://www.ncbi.nlm.nih.gov/pubmed/16297187?dopt=Abstract)
- Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zäch S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat. 2005 Sep;26(3):235-48. (http://www.ncbi.nlm.nih.gov/pubmed/16086317?dopt=Abstract)
- OMIM: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6 (http://omim.org/entry/603234)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.