Abstract
We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Acrodermatitis / genetics*
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Amino Acid Sequence
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Amino Acid Substitution
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Biomarkers
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Carrier Proteins / genetics*
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Chromosome Mapping
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Computational Biology
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Gene Deletion
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Heterozygote
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Humans
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Mutation, Missense
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Pedigree
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Protein Structure, Secondary
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Protein Structure, Tertiary
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Zinc / metabolism
Substances
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Biomarkers
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Carrier Proteins
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Zinc