Gene: [16q13/SLC12A3] solute carrier family 12 (sodium/chloride transporters), member 3; Gitelman syndrome (hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; MIM:263800);


REF

CLO,SEQ,STR,EXP "Gamba G &: JBC, 269, 17713-17722, 1994
CLO,SEQ,STR,EXP "Gamba G &: PNAS, 90, 2749-2753, 1993
CLO,SEQ,EXP,LOC "Mastroianni N &: Genomics, 35, 486-493, 1996
MUT,PAT "Simon DB &: Nature Genet, 12, 24-30, 1996

SWI

 SWISSPROT: P55017

KEY

mem, ion

CLA

coding, basic

LOC

16 q13

MIM

 MIM: 600968

Смотрите также:

  • Gene: [15q/SLC12A1] solute carrier family 12 (sodium/potassium/chloride transporters), member 1; Bartter syndrome, type 1 (hypokalemic alkalosis with hypercalciuria); [NKCC2 ]