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Article

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

Journal of molecular endocrinology - 1 Sept 2009

Dossena Silvia, Rodighiero Simona, Vezzoli Valeria, Nofziger Charity, Salvioni Elisabetta, Boccazzi Marta, Grabmayer Elisabeth, Bottà Guido, Meyer Giuliano, Fugazzola Laura, Beck-Peccoz Paolo, Paulmichl Markus

Abstract excerpt

Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This protein localizes to the cellular membrane and permits the exchange of anions between the cytosol and extracellular space. In the inner ear, pendrin conditions the endolymph, allowing for the proper function of sensory cells. Understanding...

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Identifiers

PMID: 19608655
DOI: 10.1677/JME-08-0175

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.PMID 19608655Read ↗

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