Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)

Stable Identifier
R-HSA-5619088
Type
Pathway
Species
Homo sapiens
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SLC39A4 encodes the human zinc transporter hZIP4 which plays an important role in cellular zinc homeostasis. Defects in SLC39A4 result in the inherited condition acrodermatitis enteropathica, zinc deficiency type (AEZ; MIM:201100), caused by the inability to absorb dietary zinc from the duodenum and jejunum. Clinical features include growth retardation, immune system dysfunction, severe dermatitis and mental disorders (Schmitt et al. 2009).

Literature References
PubMed ID Title Journal Year
19370757 An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

Schmitt, S, Küry, S, Giraud, M, Dreno, B, Kharfi, M, Bezieau, S

Hum. Mutat. 2009
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Name Identifier Synonyms
acrodermatitis enteropathica 0050605
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