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    FEBS Lett. 1998 Jun 5;429(1):36-40.

    Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism.

    Levy O, Ginter CS, De la Vieja A, Levy D, Carrasco N.

    Albert Einstein College of Medicine, Department of Molecular Pharmacology, Bronx, NY 10461, USA.

    Patients with congenital lack of I transport do not accumulate I in their thyroids, often resulting in severe hypothyroidism. A single amino acid substitution in the thyroid Na+/I- symporter (NIS), proline replacing threonine at position 354 (T354P), was recently identified as the cause of this condition in two independent patients. Here we report that the lack of I- transport activity in T354P NIS generated by site-directed mutagenesis, is not due to a structural change induced by proline, but rather to the absence of a hydroxyl group at the beta-carbon of the amino acid residue at position 354. Hence, this hydroxyl group is essential for NIS function.

    PMID: 9657379 [PubMed - indexed for MEDLINE]

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    • Thyroid (Armour® Thyroid)

      Thyroid is a hormone produced by the body. When taken correctly, thyroid is used to treat the symptoms of hypothyroidism (a condition where the thyroid gland does not produce enough thyroid hormone). Symptoms of hypothyr...

    • Source: AHFS Consumer Medication Information

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