disease:Defects in SLC5A5 are the cause of congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]. CHDH1 is characterized by an inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.,function:Mediates iodide uptake in the thyroid gland.,similarity:Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.,tissue specificity:Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.,
Membrane; Multi-pass membrane protein.
Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.
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