Gene: [01p36/CLCNKB] chloride channel Kb (kidney); Bartter syndrome, type 3;
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COM |
Saito-Ohara-1996 assigned the CLCNKB gene to Chr 1p36 by fluorescence in situ hybridization." |
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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)." |
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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)." |
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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 |
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KEY |
ion, mem, neu, ren |
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CLA |
coding, basic |
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LOC |
01 p36 |
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MIM |
MIM: 602023 |
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