SLC39A4, ZIP4, Zinc transporter ZIP4, Solute carrier family 39 member 4, Zrt- and Irt-like protein 4, ZIP-4
This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013],disease:Defects in SLC39A4 are the cause of acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]. AEZ is a rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinicals features are growth retardation, immune system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. All these manifestations are reversible with zinc supplementation. Without zinc therapy this disease is fatal.,function:Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability.,similarity:Belongs to the ZIP transporter (TC 2.A.5) family.,subcellular location:Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability.,tissue specificity:Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum.,
