SLC39A4 solute carrier family 39 member 4
Gene ID: 55630, updated on 5-Mar-2024Gene type: protein coding
Also known as: AEZ; ZIP4; AWMS2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC39A4
- Go to Variation Viewer for SLC39A4 variants
Summary
This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Hereditary acrodermatitis enteropathica | See labs |
Genomic context
- Location:
- 8q24.3
- Sequence:
- Chromosome: 8; NC_000008.11 (144412414..144416844, complement)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SLC39A4 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC39A4 database
- SNP: GeneViewSNPs linked from GeneView
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