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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.

ABSTRACT: 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 Sudanese patients. Methods: We generated cDNAs coding for Y348D NIS and mutants with other hydrophilic and hydrophobic amino acid substitutions at position 348 and transfected them into cells. The activity of the resulting mutants was quantitated by radioiodide transport assays. NIS glycosylation was investig

SUBMITTER: Reyna-Neyra A

PROVIDER: S-EPMC8377515 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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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.

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Dataset Information

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.

OmicsDI is part of the ELIXIR infrastructure

Tweets

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.