CLCNKB Gene

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Zhou, V. CLCNKB Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5150 (accessed on 22 September 2026).

Zhou V. CLCNKB Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5150. Accessed September 22, 2026.

Zhou, Vicky. "CLCNKB Gene" Encyclopedia, https://encyclopedia.pub/entry/5150 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CLCNKB Gene. In Encyclopedia. https://encyclopedia.pub/entry/5150

Zhou, Vicky. "CLCNKB Gene." Encyclopedia. Web. 24 December, 2020.

CLCNKB Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/clcnkb

chloride voltage-gated channel Kb

genes

References

Enríquez R, Adam V, Sirvent AE, García-García AB, Millán I, Amorós F. Gitelmansyndrome due to p.A204T mutation in CLCNKB gene. Int Urol Nephrol. 2010Dec;42(4):1099-102. doi: 10.1007/s11255-010-9850-4.
Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.Pediatr Res. 2000 Dec;48(6):754-8.
Jeck N, Waldegger P, Doroszewicz J, Seyberth H, Waldegger S. A common sequencevariation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.Kidney Int. 2004 Jan;65(1):190-7.
Jeck N, Waldegger S, Lampert A, Boehmer C, Waldegger P, Lang PA, Wissinger B, Friedrich B, Risler T, Moehle R, Lang UE, Zill P, Bondy B, Schaeffeler E,Asante-Poku S, Seyberth H, Schwab M, Lang F. Activating mutation of the renalepithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension.2004 Jun;43(6):1175-81.
Kieferle S, Fong P, Bens M, Vandewalle A, Jentsch TJ. Two highly homologousmembers of the ClC chloride channel family in both rat and human kidney. ProcNatl Acad Sci U S A. 1994 Jul 19;91(15):6943-7.
Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, SeyberthHW, Feldmann D, Hildebrandt F. Mutations in the chloride channel gene CLCNKB as acause of classic Bartter syndrome. J Am Soc Nephrol. 2000 Aug;11(8):1449-59.
Krämer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: thekidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and theirclinical relevance. Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. Review.
Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T,Nakanishi K, Yoshikawa N, Iijima K, Matsuo M. Molecular analysis of digenicinheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.
Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M,Seyberth HW, Waldegger S. Salt wasting and deafness resulting from mutations intwo chloride channels. N Engl J Med. 2004 Mar 25;350(13):1314-9.
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R,Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM,Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, JohnE, Lifton RP. Mutations in the chloride channel gene, CLCNKB, cause Bartter'ssyndrome type III. Nat Genet. 1997 Oct;17(2):171-8.

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