SLC31A1 solute carrier family 31 member 1
Gene ID: 1317, updated on 3-Jun-2024Gene type: protein coding
Also known as: CTR1; NSCT; COPT1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC31A1
- Go to Variation Viewer for SLC31A1 variants
Summary
The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of serum albumin:globulin ratio in Korean populations. GeneReviews: Not available | |
| Neurodegeneration and seizures due to copper transport defect | not available |
Genomic context
- Location:
- 9q32
- Sequence:
- Chromosome: 9; NC_000009.12 (113221544..113264492)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC31A1 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
- Variation ViewerRelated Variants
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