Review The gene family of ABC transporters-novel mutations, new phenotypes Jouni Uitto. Trends Mol Med. 2005 Aug. Abstract Members of the ABC ATP-binding cassette superfamily of genes encode transmembrane proteins that are involved in the transport of a variety of substrates both in and out of the cells, in addition to across intracellular membranes. Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin pseudoxanthoma elasticum and harlequin ichthyosis, respectively, attesting to the spectrum of ABC gene mutations in human diseases. These findings have a major impact on the molecular genetics of these devastating disorders in terms of DNA-based prenatal testing and pre-implantation genetic diagnosis. Similar articles Novel ABCA12 mutations in harlequin ichthyosis a journey from photo diagnosis to prenatal diagnosis. Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A. Aggarwal S, et al. Gene. 2015 Feb 10;5562254-6. doi Epub 2014 Dec 3. Gene. 2015. PMID 25479012 Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. 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. Akiyama M, et al. J Clin Invest. 2005 Jul;11571777-84. doi J Clin Invest. 2005. PMID 16007253 Free PMC article. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. Akiyama M. Akiyama M. Biochim Biophys Acta. 2014 Mar;18413435-40. doi Epub 2013 Aug 15. Biochim Biophys Acta. 2014. PMID 23954554 Review. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Akiyama M. Akiyama M. Arch Dermatol. 2006 Jul;1427914-8. doi Arch Dermatol. 2006. PMID 16847209 Review. Cited by Drug Repurposing, a Fast-Track Approach to Develop Effective Treatments for Glioblastoma. Ntafoulis I, Koolen SLW, Leenstra S, Lamfers MLM. Ntafoulis I, et al. Cancers Basel. 2022 Jul 29;14153705. doi Cancers Basel. 2022. PMID 35954371 Free PMC article. Review. Case Report Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants A Case Report. Liu J, Zhang X, Wang W, Lan X, Dong M, Yan K, Lei Y, Chen P, Yang M, Shan Q, Jin C. Liu J, et al. Front Genet. 2021 Jan 12;11608196. doi eCollection 2020. Front Genet. 2021. PMID 33510771 Free PMC article. Clinical and pathogenic aspects of the severe cutaneous adverse reaction epidermal necrolysis EN. Kuijper EC, French LE, Tensen CP, Vermeer MH, Bouwes Bavinck JN. Kuijper EC, et al. J Eur Acad Dermatol Venereol. 2020 Sep;3491957-1971. doi Epub 2020 May 15. J Eur Acad Dermatol Venereol. 2020. PMID 32415695 Free PMC article. Review. ABC transporters and the proteasome complex are implicated in susceptibility to Stevens-Johnson syndrome and toxic epidermal necrolysis across multiple drugs. Nicoletti P, Bansal M, Lefebvre C, Guarnieri P, Shen Y, Pe'er I, Califano A, Floratos A. Nicoletti P, et al. PLoS One. 2015 Jun 25;106e0131038. doi eCollection 2015. PLoS One. 2015. PMID 26110827 Free PMC article. ABCC6- a new player in cellular cholesterol and lipoprotein metabolism? Kuzaj P, Kuhn J, Dabisch-Ruthe M, Faust I, Götting C, Knabbe C, Hendig D. Kuzaj P, et al. Lipids Health Dis. 2014 Jul 27;13118. doi Lipids Health Dis. 2014. PMID 25064003 Free PMC article. Publication types MeSH terms Substances LinkOut - more resources Full Text Sources Elsevier Science Medical Genetic Alliance