RGD Reference Report - Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

Authors: Kury, S  Dreno, B  Bezieau, S  Giraudet, S  Kharfi, M  Kamoun, R  Moisan, JP 
Citation: Kury S, etal., Nat Genet. 2002 Jul;31(3):239-40. Epub 2002 Jun 17.
RGD ID: 1599005
Pubmed: PMID:12068297   (View Abstract at PubMed)
DOI: DOI:10.1038/ng913   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acrodermatitis enteropathica  IAGP 1599005DNA:deletions more ...RGD 
acrodermatitis enteropathica  ISOSLC39A4 (Homo sapiens)1599005; 1599005DNA:deletions more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc39a4  (solute carrier family 39 member 4)

Genes (Mus musculus)
Slc39a4  (solute carrier family 39 (zinc transporter), member 4)

Genes (Homo sapiens)
SLC39A4  (solute carrier family 39 member 4)


Additional Information