Identification of SLC39A4, a gene involved in acrodermatitis enteropathica
| Autor: | Sébastien Küry, Stéphane Bézieau, Jean-Paul Moisan, Brigitte Dréno, Monia Kharfi, Stéphanie Giraudet, Ridha Kamoun |
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| Rok vydání: | 2002 |
| Předmět: |
Heterozygote
Mutation Missense Biology Protein Structure Secondary Pathogenesis Gene expression Zinc transporter Genetics medicine Humans Amino Acid Sequence Gene Acrodermatitis enteropathica Acrodermatitis A protein Chromosome Mapping Computational Biology medicine.disease Pedigree Protein Structure Tertiary Mutational analysis Zinc Amino Acid Substitution Identification (biology) Carrier Proteins Biomarkers Gene Deletion |
| Zdroj: | Nature genetics. 31(3) |
| ISSN: | 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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