Article
Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine - 1 Oct 2026
Fujishiro Hitomi, Morisada Naoya, Mitani Nao, Nakayama Rina, Goto Natsuki, Nishito Yukina, Kambe Taiho, Okamoto Nobuhiko, Wada Yoshinao, Ishida Yusuke, Suzuki Hisato, Nozu Kandai, Kosaki Kenjiro, Himeno Seiichiro, Sumi Daigo
Abstract excerpt
ZIP8, encoded by SLC39A8, mediates cellular uptake of divalent metal ions, including manganese (Mn). Mutations in SLC39A8 cause a congenital disorder of glycosylation (CDG) associated with Mn deficiency (SLC39A8-CDG). Here, we report a novel case of SLC39A8-CDG harboring a previously unreported mutation (p.F206I) in the transmembrane domain 3 (TMD3). The patient showed markedly low serum Mn levels and abnormal...
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