6bzs | pdb_00006bzs
From Proteopedia
Human ABCC6 NBD1 in Apo state
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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
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This page was last modified 10:05, 5 September 2018.