Article
Mutagenic Analysis of the Putative ABCC6 Substrate-Binding Cavity Using a New Homology Model.
International journal of molecular sciences - 27 Jun 2021
Szeri Flora, Corradi Valentina, Niaziorimi Fatemeh, Donnelly Sylvia, Conseil Gwenaëlle, Cole Susan P C, Tieleman D Peter, van de Wetering Koen
Abstract excerpt
Inactivating mutations in ABCC6 underlie the rare hereditary mineralization disorder pseudoxanthoma elasticum. ABCC6 is an ATP-binding cassette (ABC) integral membrane protein that mediates the release of ATP from hepatocytes into the bloodstream. The released ATP is extracellularly converted into pyrophosphate, a key mineralization inhibitor. Although ABCC6 is firmly linked to cellular ATP release, the molecular...
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