6p7f
From Proteopedia
Human ABCC6 NBD2 R1459D mutant in Apo state
Structural highlights
DiseaseMRP6_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. FunctionMRP6_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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