ABCC6 Protein

The ATP-binding Cassette (ABC) protein, subfamily C, member 6 (ABCC6) is encoded for by the ABCC6 gene, on chromosome 16 ( 16p13.1). The ABC family of proteins is made up of over 100 transport proteins, with the subfamily C consisting of active membrane transport proteins involved in the movement of organic anions. The ABCC6 protein is a trans-membrane protein spanning the cell wall and is involved in transport of molecules between the extra-cellular space and the inside of the cell. Structurally, the protein is made up of 1,503 amino acids, has 17 membrane-spanning helices and two intraceullar nucleotide binding folds, and is approximately 165 kd in size. Currently the substrate of this protein is unknown; however, research is continuing to examine possible molecules.
 

Primary Researchers

Doris Hendig
Olivier Le Saux
Ivonne Pasquali-Ronchetti
Daniela Quaglino
Jouni Uitto
András Váradi
 

Related Articles

Tan M, Vanakker O, Tran H, Robson A , Lai-Cheong J , Groves R, Holder GE, Moore T. Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. Eye (Lond). 2012 May;26(5):753-5. PMID: 22261738

Mungrue IN, Zhao P, Yao Y, Meng H, Rau C, Havel JV, Gorgels TG, Bergen AA, MacLellan WR, Drake TA, Boström KI, Lusis AJ. Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model. Arterioscler Thromb Vasc Biol. 2011 Dec;31(12):2806-12. Free article in PubMed. PMID: 21979437

Szabó Z, Váradi A, Li Q, Uitto J. ABCC6 does not transport adenosine - Relevance to pathomechanism of pseudoxanthoma elasticum. Mol Genet Metab. 2011 Nov;104(3):421. PMID: 21813308

Ostuni A, Miglionico R, Monné M, Castiglione Morelli MA, Bisaccia F. The nucleotide-binding domain 2 of the human transporter protein MRP6. J Bioenerg Biomembr. 2011 Oct;43(5):465-71. PMID: 21748403

Chen ZS, Tiwari AK. Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases. FEBS J. 2011 Sep;278(18):3226-45. Free article at PubMed. PMID: 21740521

Váradi A, Szabo Z, Pomozi V, De Boussac H, Fulop K, Arányi T. Abcc6 as a target In pseudoxanthoma elasticum. Curr Drug Targets. 2011 May;12(5):671-82. Free article in PubMed. PMID: 21039331

Ostuni A, Miglionico R, Bisaccia F, Morelli MAC. Biochemical characterization and NMR study of the region E748-A785 of the human protein MRP6/ABCC6. Protein Peptide Lett. 2010 Jul;17(7):861-6. PMID: 20226001, 20205653

Fülöp K, Barna L, Symmons O, Závodszky P, Váradi A. Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6. Biochem Biophys Res Commun. 2009 Feb 13;379(3):706-9. PMID: 19123228

Hendig D, Langmann T, Kocken S, Zarbock R, Szliska C, Schmitz G, Kleesiek K, Götting C. Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis. Lab Invest. 2008 Dec;88(12):1303-15. PMID: 18936737

Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. ABCC6 and pseudoxanthoma elasticum. Pflugers Arch. 2007 Feb;453(5):685-91. Free article at Journal Website. PMID: 16604369

Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D, Bacchelli B, Pasquali Ronchetti I. Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients. Matrix Biol. 2003 Nov;22(6):491-500. PMID: 14667841

Beck K, Hayashi K, Nishiguchi B, Le Saux O, Hayashi M, Boyd CD. The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter. J Histochem Cytochem. 2003 Jul;51(7):887-902. Free article at Journal Website. PMID: 12810839

Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet. 2003 Mar;11(3):215-24. Free article at Journal Website. PMID: 12673275

Iliás A, Urbán Z, Seidl TL, Le Saux O, Sinkó E, Boyd CD, Sarkadi B, Váradi A. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem. 2002 May 10;277(19):16860-7.  Free article at Journal Website. PMID: 11880368

Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6.  Free article in PubMed. PMID: 10811882