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Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKBgene.[5][6]
Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gatedchloride channels, which comprises at least 9 mammalian chloride channels.[7] Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome.[8]CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney.[5]
^Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (September 1996). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID8812470.
Saito-Ohara F, Uchida S, Takeuchi Y, et al. (1997). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID8812470.
Simon DB, Bindra RS, Mansfield TA, et al. (1997). "Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III". Nat. Genet. 17 (2): 171–8. doi:10.1038/ng1097-171. PMID9326936. S2CID10914641.
Speirs HJ, Wang WY, Benjafield AV, Morris BJ (2005). "No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36". J. Hypertens. 23 (8): 1491–6. doi:10.1097/01.hjh.0000174300.73992.cc. PMID16003175. S2CID8317422.
Gorgojo JJ, Donnay S, Jeck N, Konrad M (2006). "A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age". Horm. Res. 65 (2): 62–8. doi:10.1159/000090601. PMID16391491. S2CID19494002.
This page was last edited on 19 August 2023, at 03:43