ABCA12
3473058
220196951
2008-06-18T18:51:44Z
Miguel Andrade
569674
/* External links */ see my user page about this edit
{{protein
|Name=ATP-binding cassette, sub-family A (ABC1), member 12
|caption=
|image=
|width=
|HGNCid=14637
|Symbol=ABCA12
|AltSymbols=
|EntrezGene=26154
|OMIM=607800
|RefSeq=NM_173076
|UniProt=Q86UK0
|PDB=
|ECnumber=
|Chromosome=2
|Arm=q
|Band=35
|LocusSupplementaryData=
}}
{{expert}}
'''ABCA12''' ('''ATP-binding cassette, sub-family A (ABC1), member 12''') is a [[gene]] that belongs to a group of genes called the [[ATP-binding cassette family]], which makes proteins that transport molecules across [[cell membrane]]s. The ABCA12 gene is active in some types of [[skin cell]]s and in several other tissues, such as [[testis]], [[placenta]], [[lung]], [[stomach]], and fetal brain and liver. The ABCA12 protein appears to be essential for normal development of the [[skin]], which provides a barrier between the body and its surrounding environment. Although the exact function of the protein is unknown, researchers suggest that it probably plays an important role in transporting [[lipid]]s (fats) in cells that make up the outermost layer of skin (the [[Epidermis (skin)|epidermis]]).
The ABCA12 gene is located on the long (q) arm of [[chromosome 2 (human)|chromosome 2]] between positions 34 and 35, from [[base pair]] 215,621,772 to base pair 215,828,656.
==Related conditions==
Several [[mutation]]s in the ABCA12 gene are known to cause [[harlequin ichthyosis]]. Most of these mutations are predicted to lead to an absence of ABCA12 protein or the production of an extremely small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein causes numerous problems with the development of the epidermis before and after birth. Abnormalities in lipid transport prevent the skin from forming an effective barrier and result in the hard, thick scales characteristic of harlequin ichthyosis.
Mutations in the ABCA12 gene also cause another severe skin disorder, [[lamellar ichthyosis type 2]]. People with this disorder have red, scaly, plate-like skin covering most of their bodies. The ABCA12 mutations that cause this disorder substitute one [[amino acid]] (a building block of proteins) for another amino acid in the ABCA12 protein. These mutations almost always occur in an important functional region of the protein (the region that binds to [[Adenosine triphosphate|ATP]], a molecule that supplies energy for chemical reactions). Changes in the structure of the ABCA12 protein likely disrupt its ability to transport lipids, which affects the development of skin before and after birth.
==References==
<div class="references-small">
* {{cite journal | author=Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M | title=Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34 | journal=Cytogenet Genome Res | year=2002 | pages=169–76 | volume=98 | issue=2-3 | doi=10.1159/000069811 }} PMID 12697999
* {{cite journal | author=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 | title=Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis | journal=Am J Hum Genet | year=2005 | pages=794–803 | volume=76 | issue=5 | doi=10.1086/429844 }} PMID 15756637 [http://www.pubmedcentral.gov/articlerender.fcgi?tool=pubmed&pubmedid=15756637 ''Full text'']
* {{cite journal | author=Lefevre 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 | title=Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 | journal=Hum Mol Genet | year=2003 | pages=2369–78 | volume=12 | issue=18 | doi=10.1093/hmg/ddg235 }} PMID 12915478
</div>
==External links==
* [http://www.genecards.org/cgi-bin/carddisp?ABCA12 GeneCard]
* {{MeshName|ABCA12+protein,+human}}
{{Membrane transport proteins}}
[[Category:Genes]]
[[Category:ABC transporters]]