Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking
ZIP4 is a representative member of the Zrt-/Irt-like protein (ZIP) transporter family and
responsible for zinc uptake from diet. Loss-of-function mutations of human ZIP4 (hZIP4)
drastically reduce zinc absorption, causing a life-threatening autosomal recessive disorder,
acrodermatitis enteropathica (AE). These mutations occur not only in the conserved
transmembrane zinc transport machinery, but also in the extracellular domain (ECD) of
hZIP4, which is only present in a fraction of mammalian ZIPs. How these AE-causing ECD …
responsible for zinc uptake from diet. Loss-of-function mutations of human ZIP4 (hZIP4)
drastically reduce zinc absorption, causing a life-threatening autosomal recessive disorder,
acrodermatitis enteropathica (AE). These mutations occur not only in the conserved
transmembrane zinc transport machinery, but also in the extracellular domain (ECD) of
hZIP4, which is only present in a fraction of mammalian ZIPs. How these AE-causing ECD …
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