| http://purl.uniprot.org/citations/11880368 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11880368 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11880368 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the ABCC6 (MRP6) gene cause pseudoxanthoma elasticum (PXE), a rare heritable disorder resulting in the calcification of elastic fibers. In the present study a cDNA encoding a full-length normal variant of ABCC6 was amplified from a human kidney cDNA library, and the protein was expressed in Sf9 insect cells. In isolated membranes ATP binding as well as ATP-dependent active transport by ABCC6 was demonstrated. We found that glutathione conjugates, including leukotriene C(4) and N-ethylmaleimide S-glutathione (NEM-GS), were actively transported by human ABCC6. Organic anions (probenecid, benzbromarone, indomethacin), known to interfere with glutathione conjugate transport of human ABCC1 and ABCC2, inhibited the ABCC6-mediated NEM-GS transport in a specific manner, indicating that ABCC6 has a unique substrate specificity. We have also expressed three missense mutant forms of ABCC6, which have recently been shown to cause PXE. MgATP binding was normal in these proteins; ATP-dependent NEM-GS or leukotriene C(4) transport, however, was abolished. Our data indicate that human ABCC6 is a primary active transporter for organic anions. In the three ABCC6 mutant forms examined, the loss of transport activity suggests that these mutations result in a PXE phenotype through a direct influence on the transport activity of this ABC transporter."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m110918200"xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m110918200"xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Sarkadi B."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Sarkadi B."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Varadi A."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Varadi A."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Boyd C.D."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Boyd C.D."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Urban Z."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Urban Z."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Le Saux O."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Le Saux O."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Ilias A."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Ilias A."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Seidl T.L."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Seidl T.L."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Sinko E."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/author | "Sinko E."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11880368 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |