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Article

The Iodide Transport Defect-Causing Y348D Mutation in the Na+/I- Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane.

Thyroid : official journal of the American Thyroid Association - 1 Aug 2021

Reyna-Neyra Andrea, Jung Lara, Chakrabarti Mayukh, Suárez Mikel X, Amzel L Mario, Carrasco Nancy

Abstract excerpt

Background: The sodium/iodide (Na+/I-) symporter (NIS) mediates active transport of I- into the thyroid gland. Mutations in the SLC5A5 gene, which encodes NIS, cause I- transport defects (ITDs)-which, if left untreated, lead to congenital hypothyroidism and consequent cognitive and developmental deficiencies. The ITD-causing NIS mutation Y348D, located in transmembrane segment (TMS) 9, was reported in three...

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Identifiers

PMID: 33779310
DOI: 10.1089/thy.2020.0931
PMCID: PMC8377515

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