Gene Symbol | SLC5A5 |
Entrez Gene ID | 6528 |
Full Name | solute carrier family 5 member 5 |
Synonyms | NIS,TDH1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Thyroid dyshormonogenesis 1, 274400 (3) |