Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
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DOI: 10.1016/j.biochi.2016.10.002
Abstract: Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic spectrum, including Pendred Syndrome and non-syndromic hearing loss with enlarged… read more here.
Keywords: transmembrane; transmembrane domain; model; pendrin slc26a4 ... See more keywords