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
| Autor: | Mayukh Chakrabarti, Nancy Carrasco, L. Mario Amzel, Mikel X. Suárez, Andrea Reyna-Neyra, Lara Jung |
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| Rok vydání: | 2021 |
| Předmět: |
Sodium-iodide symporter
chemistry.chemical_classification Mutation Chemistry Endocrinology Diabetes and Metabolism Sodium Iodide Thyroid chemistry.chemical_element 030209 endocrinology & metabolism medicine.disease_cause Cell biology 03 medical and health sciences 0302 clinical medicine Endocrinology Membrane medicine.anatomical_structure 030220 oncology & carcinogenesis Symporter medicine Gene health care economics and organizations |
| Zdroj: | Thyroid. |
| ISSN: | 1557-9077 1050-7256 |
| Popis: | 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)—whi... |
| Databáze: | OpenAIRE |
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