The clcnkb gene encodes a chloride channel kidney b protein, which is a voltage-gated chloride channel localized to the plasma membrane. This protein functions in ion transport across epithelial cells ...[+]

The clcnkb gene encodes a chloride channel kidney b protein, which is a voltage-gated chloride channel localized to the plasma membrane. This protein functions in ion transport across epithelial cells and is involved in renal chloride reabsorption. Expression is found in the pronephros, specifically within the distal convoluted tubule and early connecting tubule segments. [-]

             Bartter disease type 3
             Bartter disease type 4a
             Bartter disease type 4b

          BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A
          BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD