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Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Stable Identifier
R-HSA-5619088
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) (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
Kharfi, M
,
Schmitt, S
,
Giraud, M
,
Küry, S
,
Bezieau, S
,
Dreno, B
Hum. Mutat.
2009
Participants
Events
Defective SLC39A4 does not transport Zn2+ from extracellular region to cytosol
(Homo sapiens)
Participates
as an event of
SLC transporter disorders (Homo sapiens)
Disease
Name
Identifier
Synonyms
acrodermatitis enteropathica
DOID:0050605
Authored
Jassal, B (2014-08-22)
Reviewed
Broer, S (2015-08-04)
Created
Jassal, B (2014-08-22)
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