Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.
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.
Küry
Sébastien
S
Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, 1 rue Gaston Veil, 44035 Nantes Cedex, France. skury@sante.univ-nantes.fr
Dréno
Brigitte
B
Bézieau
Stéphane
S
Giraudet
Stéphanie
S
Kharfi
Monia
M
Kamoun
Ridha
R
Moisan
Jean-Paul
JP
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
D015415:Biomarkers; D002352:Carrier Proteins; D015032:Zinc