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SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5

Also known as: NIS; TDH1

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

DescriptionTests
Thyroid dyshormonogenesis 1
MedGen: C1848805OMIM: 274400GeneReviews: Not available
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Genomic context

Location:
19p13.11
Sequence:
Chromosome: 19; NC_000019.10 (17871832..17895174)
Total number of exons:
15

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