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ATP-binding cassette, sub-family A (ABC1), member 12 Identifiers Symbol ABCA12 Entrez 26154 HUGO 14637 OMIM 607800 RefSeq NM_173076 UniProt Q86UK0 Other data Locus Chr. 2 q35 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 membranes. The ABCA12 gene is active in some types of skin cells 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 lipids (fats) in cells that make up the outermost layer of skin (the epidermis). The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656. Related conditions Several mutations in the ABCA12 gene are known to cause harlequin type 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 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 Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M (2002). "Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34". Cytogenet Genome Res 98 (2-3): 16976. doi:10.1159/000069811. PMID 12697999 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 (2005). "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis". Am J Hum Genet 76 (5): 794803. doi:10.1086/429844. PMID 15756637 Full text 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 (2003). "Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2". Hum Mol Genet 12 (18): 236978. doi:10.1093/hmg/ddg235. PMID 12915478 External links GeneCard MeSH ABCA12+protein,+human v d e Membrane proteins, carrier proteins: membrane transport proteins ABC-transporter A1 A2 A3 A4 A7 A8 A12 A13 B1 B2-3 B2 B3 B4 B5 B6 B7 B9 B11 C1 C2 C3 C4 C5 C6 C8-9 (C8, C9) C10 C11 C13 D1 D2 D3 D4 E1 F1 F2 G1 G2 G4 Sterolin (G5 G8) Solute carrier 1-10 1A1-7 1A1 1A2 1A3 1A4 1A5 1A6 1A7 Glucose transporter: 2A1 (GLUT1) 2A2 (GLUT2) 2A3 (GLUT3) 2A4 (GLUT4) 2A5 (GLUT5) 2A6 (GLUT6) 2A8 (GLUT8) 2A9 2A10 2A12 3A1 3A2 4A1 4A2 4A3 4A4 4A5 4A7 4A8 4A11 5A1-2 5A1 5A3 5A5 5A8 6A1 6A2 6A3 6A4 6A5 6A8 6A9 6A18 6A19 6A20 7A1 7A2 7A3 7A4 7A5 7A7 7A8 7A9 7A11 8A1-3 9A1 9A2 9A3 9A3R1 9A3R2 9A5 9A6 9A8 10A1 10A2 10A3 10A7 11-20 11A1 11A2 11A3 12A1-2 12A3 12A4 12A5 12A6 12A7 14A1 13A3 14A2 15A1 15A2 16A1 16A2 16A3 16A4 17A1 17A5 17A6-8 17A7 18A1 18A2 18A3 19A1 19A2 19A3 20A1 20A2 21-30 22A1 22A2 22A3 22A4 22A5 22A6 22A7 22A9 22A11 22A12 22A18 23A1 23A2 24A1-2 24A5 25A1 25A3 25A4-6 (25A4, 25A6), 25A8 25A10 25A11 25A12 25A13 25A14 25A15 25A17 25A19 25A20 25A27 25A31 25A37 25A39 26A2 26A3 26A4 26A5 26A6 26A7 26A8 27A1 27A2 27A3 27A4 28A1 28A2 29A1 29A2 29A4 30A1 30A4 30A7 30A8 31-40 31A1 31A2 32A1 34A1 34A2 34A3 35A1 35A2 35B2 35B4 35C1 36A1 36A2 37A4 38A2 38A3 39A1 39A2 39A3 39A4 39A6 39A7 41-47 40A1 42A1 42A2 42A3 43A1 44A1 44A2 44A4 45A2 46A1 47A1 47A2 O O1A2 O1B1 O1B3 O2B1 O431 O4A1 Other Amino acid (CD98) Fatty acid (CD36) Ion channels Ion pumps Mitochondrial membrane transport protein Neurotransmitter transport proteins Nuclear (Importin Karyopherin) Categories: Genes on chromosome 2 Genes ABC transportersHidden categories: Genetics articles needing expert attention Articles needing expert attention from February 2009 All articles needing expert attention Articles lacking in-text citations from July 2009 All articles lacking in-text citations Protein pages needing a picture The e-commerce company in China offers quality products such as China fiber optic coupler , lc fiber optic adapter, and more. 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