Article
Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.
Life science alliance - 1 Apr 2025
Wang Wen-An, Garofoli Andrea, Ferrada Evandro, Klimek Christoph, Steurer Barbara, Ingles-Prieto Alvaro, Osthushenrich Tanja, MacNamara Aidan, Malarstig Anders, Wiedmer Tabea, Superti-Furga Giulio
Abstract excerpt
The human SLC39A8 (hSLC39A8) gene encodes a plasma membrane protein SLC39A8 (ZIP8) that mediates the specific uptake of the metals Cd2+, Mn2+, Zn2+, Fe2+, Co2+, and Se4+ Pathogenic variants within hSLC39A8 are associated with congenital disorder of glycosylation type 2 (CDG type II) or Leigh-like syndrome. However, numerous mutations of uncertain significance are also linked to different conditions or benign...
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