ClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.

Abstract excerpt

Mutations in the CLCNKB gene (1p36), encoding the basolateral chloride channel ClC-Kb, cause type 3 Bartter syndrome. We identified a family with a mixed Bartter/Gitelman phenotype and early-onset kidney failure and by employing a candidate gene approach, identified what we believe is a novel homozygous mutation (CLCNKB c.499G>T [p.Gly167Cys]) in exon 6 of CLCNKB in the index patient. We then validated these...

Topics

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• Chloride Channels
• Glycosylation
• Bartter Syndrome
• HEK293 Cells
• Kidney Tubules, Distal