Reviewed November 2008
What is the official name of the ABCA12 gene?
The official name of this gene is “ATP-binding cassette, sub-family A (ABC1), member 12.”
ABCA12 is the gene's official symbol. The ABCA12 gene is also known by other names, listed below.
What is the normal function of the ABCA12 gene?
The ABCA12 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across cell membranes. In particular, the ABCA12 protein plays a major role in transporting fats (lipids) in cells that make up the outermost layer of skin (the epidermis). This lipid transport appears to be essential for normal development of the skin. The ABCA12 protein is also found in several other tissues, including the testes, placenta, lung, stomach, and fetal brain and liver.
Does the ABCA12 gene share characteristics with other genes?
The ABCA12 gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPases).
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 ABCA12 gene related to health conditions?
- harlequin ichthyosis - caused by mutations in the ABCA12 gene
Several mutations in the ABCA12 gene have been identified in people with harlequin ichthyosis. Most of these mutations probably lead to an absence of ABCA12 protein or the production of an extremely small version of the protein that cannot transport lipids properly. A lack of lipid transport causes numerous problems with the development of the epidermis before and after birth. Specifically, it prevents the skin from forming an effective barrier against fluid loss (dehydration) and infections, and leads to the formation of hard, thick scales characteristic of harlequin ichthyosis.
- other disorders - caused by mutations in the ABCA12 gene
Mutations in the ABCA12 gene also cause a skin disorder called lamellar ichthyosis. People with this disorder have dark, scaly, plate-like skin covering most of their bodies. These skin abnormalities tend to be less severe than those seen with harlequin ichthyosis.
The ABCA12 mutations that cause lamellar ichthyosis change single protein building blocks (amino acids) in the ABCA12 protein. These mutations almost always alter a region of the protein that normally allows it to attach (bind) to ATP, a molecule that supplies energy for chemical reactions. These changes likely disrupt the protein's ability to transport lipids, which affects the development of the skin before and after birth.
Where is the ABCA12 gene located?
Cytogenetic Location: 2q34
Molecular Location on chromosome 2: base pairs 214,931,541 to 215,138,427
The ABCA12 gene is located on the long (q) arm of chromosome 2 at position 34.
More precisely, the ABCA12 gene is located from base pair 214,931,541 to base pair 215,138,427 on chromosome 2.
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 ABCA12?
You and your healthcare professional may find the following resources about ABCA12 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
OMIM - Genetic disorder catalog
- ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12 (http://omim.org/entry/607800)
- ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (http://omim.org/entry/601277)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ABCA12.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=26154)
- HGNC Gene Family: ATP binding cassette transporters / subfamily A (http://www.genenames.org/genefamilies/ABC)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=14637)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/26154)
What other names do people use for the ABCA12 gene or gene products?
- ATP-binding cassette 12
- ATP-binding cassette, sub-family A, member 12
- ATP-binding cassette transporter 12
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 ABCA12?
You may find definitions for these and many other terms in the Genetics Home Reference
- Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, Niizeki H, Miyagawa S, Shimizu H. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. J Invest Dermatol. 2006 Jul;126(7):1518-23. Epub 2006 May 4. (http://www.ncbi.nlm.nih.gov/pubmed/16675967?dopt=Abstract)
- Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005 Jul;115(7):1777-84. (http://www.ncbi.nlm.nih.gov/pubmed/16007253?dopt=Abstract)
- Akiyama M. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol. 2006 Jul;142(7):914-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16847209?dopt=Abstract)
- Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denèfle P, Rosier M. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res. 2002;98(2-3):169-76. (http://www.ncbi.nlm.nih.gov/pubmed/12697999?dopt=Abstract)
- Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest. 2005 Jul;115(7):1708-10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16007249?dopt=Abstract)
- Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5):794-803. Epub 2005 Mar 8. (http://www.ncbi.nlm.nih.gov/pubmed/15756637?dopt=Abstract)
- Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003 Sep 15;12(18):2369-78. Epub 2003 Jul 15. (http://www.ncbi.nlm.nih.gov/pubmed/12915478?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/26154)
- Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov;126(11):2408-13. Epub 2006 Aug 10. (http://www.ncbi.nlm.nih.gov/pubmed/16902423?dopt=Abstract)
- Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP. Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol. 2008 Mar;158(3):611-3. Epub 2007 Nov 6. (http://www.ncbi.nlm.nih.gov/pubmed/17986308?dopt=Abstract)
- Uitto J. The gene family of ABC transporters--novel mutations, new phenotypes. Trends Mol Med. 2005 Aug;11(8):341-3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15996518?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.