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References OMIM Gene GeneReviews HGMD HGNC
last update : 01-10-2009
Symbol AEZ
Location 8q24.3
Name acrodermatitis enteropathica
Corresponding gene SLC39A4
Main clinical features
  • diarrhea, alopecia, growth failure, zinc deficiency type
  • periorificial and acral dermatitis, alopecia, and diarrhea, caused by a defective intestinal zinc absorption, especially in the duodenum and jejunum, two key sites
  • for zinc homeostasis
  • decrease in plasma and serum zinc levels (<50 mg/dL
  • Genetic determination
    Function/system disorder metabolism/metal
    Type disease
    Gene product
    Name solute carrier family 39 member 4