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.,
Cell membrane ; Multi-pass membrane protein . Recycling endosome membrane ; Multi-pass membrane protein . Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability.
Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum.