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XB-GENEPAGE-22062176
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slc26a4
???displayGene.name???:
solute carrier family 26 member 4 gene 1
???displayGene.synonyms???
pendrin
,
slc26a4.1
(
Nomenclature history )
AI Protein Function
:
The slc26a4 gene encodes a pendrin protein, an anion exchanger transporter. It functions in chloride-bicarbonate exchange and is involved in iodide uptake within the endolymphatic sac. The protein loca...[+]
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Diseases:
Disease Ontology:
enlarged vestibular aqueduct
MIM:
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4
External Links:
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