{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe SLC26A4 gene encodes pendrin, a member of the SLC26 anion exchanger family initially delineated along with related transporters (for example, SLC26A2 and SLC26A3) that play fundamental roles in ion transport in a tissue‐specific manner. In thyroid follicular cells, pendrin localizes to the apical membrane and mediates the efflux of iodide into the follicular lumen—a critical step for thyroid hormone biosynthesis. Studies using iodide uptake and efflux assays in mammalian and Xenopus oocyte systems have confirmed that wild‐type pendrin drives chloride, iodide, and bicarbonate exchange, whereas naturally occurring mutations result in mislocalization and impaired iodide transport that underlies the partially defective iodide organification observed in Pendred syndrome and related thyroid dysfunction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the inner ear, pendrin is indispensable for establishing and maintaining the ionic composition and pH of the endolymph. Its dysfunction—whether due to biallelic mutations or complex genotype interactions—is strongly associated with sensorineural hearing loss, often accompanied by inner ear malformations such as an enlarged vestibular aqueduct (EVA) or Mondini dysplasia. Extensive studies in diverse ethnic cohorts have demonstrated a high mutation detection rate in patients with Pendred syndrome or non‐syndromic EVA, and genotype–phenotype investigations have revealed that, although many patients harbor severe alleles that abolish exchange activity, varying degrees of residual function are detectable in some missense variants. These findings not only underscore pendrin’s central role in hearing but also highlight the multifactorial genetic background of EVA, where mutation screening provides key diagnostic and prognostic information."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "29"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPendrin is also expressed in the kidney—specifically, in the β‐intercalated cells of the cortical collecting duct—where it facilitates chloride reabsorption via Cl⁻/HCO₃⁻ exchange. Overexpression studies in transgenic mouse models have demonstrated that enhanced pendrin activity can drive increased chloride (and, subsequently, sodium) absorption, contributing to salt‐sensitized hypertension."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "30"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nWithin the respiratory tract, pendrin is upregulated in response to inflammatory mediators such as IL‑4 and IL‑13. In airway epithelial cells, pendrin contributes to mucus production and regulates the composition of the airway surface liquid by mediating Cl⁻/HCO₃⁻ exchange. Both in vitro and in vivo studies have implicated pendrin in the pathophysiology of asthma, chronic obstructive pulmonary disease, and even cystic fibrosis, suggesting that modulation of its function may represent a therapeutic target in these conditions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "31", "end_ref": "36"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the cellular level, missense mutations and other genetic defects in SLC26A4 lead to misfolding, aberrant trafficking, and retention of pendrin in the endoplasmic reticulum, resulting in loss or reduction of its ion exchange activity. Recent work has revealed that molecular chaperones and unconventional trafficking pathways can rescue the cell‐surface expression and function of certain mutant pendrin proteins, thereby opening avenues for potential therapeutic intervention in Pendred syndrome and related disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "37", "end_ref": "39"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hannes Lohi, Minna Kujala, Siru Makela, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Endocrinol Metab (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/jcem.87.4.8435"}], "href": "https://doi.org/10.1210/jcem.87.4.8435"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11932316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11932316"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mary P Gillam, Aniket R Sidhaye, Eun Jig Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional characterization of pendrin in a polarized cell system. 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