title: Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.
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.
authors.affiliation: Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, 1 rue Gaston Veil, 44035 Nantes Cedex, France. skury@sante.univ-nantes.fr
authors.forename: Sébastien
authors.initials: S
authors.lastname: Küry
authors.forename: Brigitte
authors.initials: B
authors.lastname: Dréno
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bézieau
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Giraudet
authors.forename: Monia
authors.initials: M
authors.lastname: Kharfi
authors.forename: Ridha
authors.initials: R
authors.lastname: Kamoun
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Moisan
mesh_terms: D000169:Acrodermatitis / Q000235:genetics*; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D015415:Biomarkers; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D019295:Computational Biology; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D015032:Zinc / Q000378:metabolism
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; D015032:Zinc