The pendrin gene (SLC26A4) was initially identified through the positional cloning in
patients with Pendred syndrome, a heritable recessive genetic disorder (MIM# 274600) …

Abstract Pendrin (SLC26A4, PDS) is an electroneutral anion exchanger transporting I-, Cl-,
HCO3-, OH-, SCN-and formate. In the thyroid, pendrin is expressed at the apical membrane …

Abstract Background/Aims: Pendrin (SLC26A4), a transporter accomplishing anion
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …

Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Abstract Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …

Background: Pendrin is a multifunctional anion transporter that exchanges chloride and
iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney and …

Pendred's syndrome results from bi-allelic pathogenic variants in the SLC26A4 gene and is
characterized by sensorineural deafness and a partial thyroid iodine organification defect …

Abstract Pendrin (SLC26A4) is an anion exchanger from the SLC26 transporter family which
is mutated in human patients affected by Pendred syndrome, an autosomal recessive …

For over 100 years after the first description of the disorder, the molecular pathology
underlying the deafness and thyroid pathology in Pendred syndrome (PS) remained …

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 …