Gene: [15q/SLC12A1] solute carrier family 12 (sodium/potassium/chloride transporters), member 1; Bartter syndrome, type 1 (hypokalemic alkalosis with hypercalciuria); [NKCC2 ]
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PAT |
Bartter syndrome is an unusual form of secondary hyperaldosteronism in which hypertrophy and hyperplasia of the renal juxtaglomerular cells are associated with normal blood pressure and hypokalemic alkalosis in the absence of edema. The primary defect resides in active chloride reabsorption in the loop of Henle. The features are short stature, hyperactive renin-angiotensin system, lack of effect of angiotensin on blood pressure, renal potassium wasting, increased renal prostaglandin production, and occasionally hypomagnesemia." |
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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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REL |
GEM:05q233/SLC12A2; GEM:16q13/SLC12A3. |
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REF |
CLO,SEQ,LIN,LOC "Quaggin SE &: Mammal Genome, 6, 557-561, 1995 CLO,SEQ,GEN,LOC,MUT,PAT "Simon DB &: Nature Genet, 13, 183-188, 1996 |
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KEY |
mem, ion, ren, hem, mtbd |
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CLA |
coding, basic |
|
LOC |
15 q15-21 |
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MIM |
MIM: 600839 |
|
SYN |
NKCC2 |
