Gene: [01p36/CLCNKB] chloride channel Kb (kidney); Bartter syndrome, type 3;

COM

Saito-Ohara-1996 assigned the CLCNKB gene to Chr 1p36 by fluorescence in situ hybridization."

PAT

Bartter syndrome is an autosomal recessive form of often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels (see also MIM:241200)."

CAG

Type 1 Bartter syndrome is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (GEM:15q/SLC12A1). Type 2 Bartter syndrome is caused by loss-of-function mutations in the ATP-sensitive potassium channel KCNJ1/ROMK (GEM:11q24/KCNJ1). Type 3 Bartter syndrome is caused by loss-of-function mutations in the chloride channel Kb (GEM:01p36/CLCNKB)."

REF

COD,SEQ,EVO,FAG "Kieferle S &: PNAS, 91, 6943-6947, 1994
LOC,FAG "Saito-Ohara F &: Genomics, 36, 372-374, 1996
PAT,MUT "Simon DB &: Nature Genet, 17, 171-178, 1997
CLO,SEQ "Takeuchi Y &: Kidney Int, 48, 1497-1503, 1995

KEY

ion, mem, neu, ren

CLA

coding, basic

LOC

01 p36

MIM

MIM: 602023

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