Structural highlights
Disease
[MRP6_HUMAN] Generalized arterial calcification of infancy;Pseudoxanthoma elasticum. The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype. The disease is caused by mutations affecting the gene represented in this entry.
Function
[MRP6_HUMAN] Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).[1] Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.[2]
References
- ↑ Ilias A, Urban Z, Seidl TL, Le Saux O, Sinko E, Boyd CD, Sarkadi B, Varadi 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. doi: 10.1074/jbc.M110918200. Epub 2002 , Mar 5. PMID:11880368 doi:http://dx.doi.org/10.1074/jbc.M110918200
- ↑ Ostuni A, Lara P, Armentano MF, Miglionico R, Salvia AM, Monnich M, Carmosino M, Lasorsa FM, Monne M, Nilsson I, Bisaccia F. The hepatitis B x antigen anti-apoptotic effector URG7 is localized to the endoplasmic reticulum membrane. FEBS Lett. 2013 Sep 17;587(18):3058-62. doi: 10.1016/j.febslet.2013.07.042. Epub , 2013 Jul 31. PMID:23912081 doi:http://dx.doi.org/10.1016/j.febslet.2013.07.042
