SLC40A1 solute carrier family 40 member 1
Gene ID: 30061, updated on 4-Jan-2025Gene type: protein coding
Also known as: FPN; FPN1; HFE4; MTP1; IREG1; MST079; MSTP079; SLC11A3
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC40A1
- Go to Variation Viewer for SLC40A1 variants
Summary
The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hemochromatosis type 4 | See labs |
| Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. GeneReviews: Not available |
Genomic context
- Location:
- 2q32.2
- Sequence:
- Chromosome: 2; NC_000002.12 (189560590..189580786, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC40A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- SLC40A1 @ LOVD
- Variation ViewerRelated Variants
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