Defective SLC39A4 does not transport Zn2+ from extracellular region to cytosol

Stable Identifier
R-HSA-5654125
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. Mutations casuing AEZ include G512W, L549del, G330D, P200L, G526R, R95C, 1223_1227del and 968_971del (Kury et al. 2002, Wang et al. 2003, Nakano et al. 2003, Schmitt et al. 2009).

Literature References
PubMed ID Title Journal Year
12787121 Novel SLC39A4 mutations in acrodermatitis enteropathica

Nakano, A, Nakano, H, Nomura, K, Toyomaki, Y, Hanada, K

J. Invest. Dermatol. 2003
12068297 Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

Kury, S, Dreno, B, Bezieau, S, Giraudet, S, Kharfi, M, Kamoun, R, Moisan, JP

Nat Genet 2002
12032886 A novel member of a zinc transporter family is defective in acrodermatitis enteropathica

Wang, K, Zhou, B, Kuo, YM, Zemansky, J, Gitschier, J

Am J Hum Genet 2002
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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
zinc ion transmembrane transporter activity of SLC39A4 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
acrodermatitis enteropathica 0050605
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