SLC5A5 solute carrier family 5 member 5
Gene ID: 6528, updated on 17-Sep-2024Gene type: protein coding
Also known as: NIS; TDH1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC5A5
- Go to Variation Viewer for SLC5A5 variants
Summary
This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Thyroid dyshormonogenesis 1 | See labs |
Genomic context
- Location:
- 19p13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (17871945..17895174)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC5A5 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
- SLC5A5 database
- Variation ViewerRelated Variants
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