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

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5619088

PubChem

R-HSA-5619088

Description

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).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
Q6P5W5	Zinc transporter ZIP4	SLC39A4 ZIP4	view

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