ABCA5

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecule across extra- and intracellular membranes. This encoded protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABCA family members on 17q24. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008].

Mutations in ABCA5 cause excessive hair overgrowth.{{cite journal | vauthors = DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM | title = Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth | journal = PLOS Genetics | volume = 10 | issue = 5 | pages = e1004333 | year = 2014 | pmid = 24831815 | pmc = 4022463 | doi = 10.1371/journal.pgen.1004333 | doi-access = free }}

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• {{UCSC gene info|ABCA5}}

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• {{cite journal | vauthors = Hu Y, Wang M, Veverka K, Garcia FU, Stearns ME | title = The ABCA5 protein: A urine diagnostic marker for prostatic intraepithelial neoplasia | journal = Clinical Cancer Research | volume = 13 | issue = 3 | pages = 929–38 | year = 2007 | pmid = 17289887 | doi = 10.1158/1078-0432.CCR-06-1718 | s2cid = 11849206 | doi-access = free }}
• {{cite journal | vauthors = Dean M, Rzhetsky A, Allikmets R | title = The human ATP-binding cassette (ABC) transporter superfamily | journal = Genome Research | volume = 11 | issue = 7 | pages = 1156–66 | year = 2001 | pmid = 11435397 | doi = 10.1101/gr.184901 | s2cid = 9528197 | doi-access = free }}
• {{cite journal | vauthors = Kubo Y, Sekiya S, Ohigashi M, Takenaka C, Tamura K, Nada S, Nishi T, Yamamoto A, Yamaguchi A | title = ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms | journal = Molecular and Cellular Biology | volume = 25 | issue = 10 | pages = 4138–49 | year = 2005 | pmid = 15870284 | pmc = 1087723 | doi = 10.1128/MCB.25.10.4138-4149.2005 }}
• {{cite journal | vauthors = Saini V, Hose CD, Monks A, Nagashima K, Han B, Newton DL, Millione A, Shah J, Hollingshead MG, Hite KM, Burkett MW, Delosh RM, Silvers TE, Scudiero DA, Shoemaker RH | title = Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma | journal = PLOS ONE | volume = 7 | issue = 8 | pages = e41401 | year = 2012 | pmid = 22870217 | pmc = 3411700 | doi = 10.1371/journal.pone.0041401 | bibcode = 2012PLoSO...741401S | doi-access = free }}
• {{cite journal | vauthors = Ohtsuki S, Kamoi M, Watanabe Y, Suzuki H, Hori S, Terasaki T | title = Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor | journal = Biological & Pharmaceutical Bulletin | volume = 30 | issue = 6 | pages = 1144–6 | year = 2007 | pmid = 17541169 | doi = 10.1248/bpb.30.1144 | doi-access = free }}
• {{cite journal | vauthors = Nagase T, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins | journal = DNA Research | volume = 8 | issue = 4 | pages = 179–87 | year = 2001 | pmid = 11572484 | doi = 10.1093/dnares/8.4.179 | doi-access = free }}
• {{cite journal | vauthors = Vásquez-Moctezuma I, Meraz-Ríos MA, Villanueva-López CG, Magaña M, Martínez-Macias R, Sánchez-González DJ, García-Sierra F, Herrera-González NE | title = ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma | journal = Actas Dermo-sifiliograficas | volume = 101 | issue = 4 | pages = 341–8 | year = 2010 | pmid = 20487690 | doi = 10.1016/s1578-2190(10)70645-4 | doi-access = free }}
• {{cite journal | vauthors = Petry F, Kotthaus A, Hirsch-Ernst KI | title = Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant | journal = Biochemical and Biophysical Research Communications | volume = 300 | issue = 2 | pages = 343–50 | year = 2003 | pmid = 12504089 | doi = 10.1016/s0006-291x(02)02827-9 }}
• {{cite journal | vauthors = Allikmets R, Gerrard B, Hutchinson A, Dean M | title = Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database | journal = Human Molecular Genetics | volume = 5 | issue = 10 | pages = 1649–55 | year = 1996 | pmid = 8894702 | doi = 10.1093/hmg/5.10.1649 | doi-access = free }}

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