Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

Sébastien Küry; Brigitte Dréno; Stéphane Bézieau; Stéphanie Giraudet; Monia Kharfi; Ridha Kamoun; Jean-Paul Moisan

doi:10.1038/ng913

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

Nat Genet. 2002 Jul;31(3):239-40. doi: 10.1038/ng913. Epub 2002 Jun 17.

Authors

Sébastien Küry¹, Brigitte Dréno, Stéphane Bézieau, Stéphanie Giraudet, Monia Kharfi, Ridha Kamoun, Jean-Paul Moisan

Affiliation

¹ Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, 1 rue Gaston Veil, 44035 Nantes Cedex, France. [email protected]

PMID: 12068297
DOI: 10.1038/ng913

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

Research Support, Non-U.S. Gov't

MeSH terms

Acrodermatitis / genetics*
Amino Acid Sequence
Amino Acid Substitution
Biomarkers
Carrier Proteins / genetics*
Chromosome Mapping
Computational Biology
Gene Deletion
Heterozygote
Humans
Mutation, Missense
Pedigree
Protein Structure, Secondary
Protein Structure, Tertiary
Zinc / metabolism

Substances

Biomarkers
Carrier Proteins
Zinc