Gene: [11q24/KCNJ1] potassium inwardly-rectifying channel, subfamily J, member 1; Bartter syndrome, type 2 (antenatal hypercalciuric; MIM:601678); hyperprostaglandin E syndrome (MIM:601678);


REL

See FAM:KCN/00.0.

REF

CLO,LOC "Krishnan SN &: Hum Genet, 96, 155-160, 1995
CLO,SEQ,STR "Shuck ME &: JBC, 269, 24261-24270, 1994
MUT,HET "Simon DB &: Nature Genet, 14, 152-156, 1996
CLO,SEQ,LOC "Yano H &: Mol Pharmacol, 45, 854-860, 1994

SWI

 SWISSPROT: P48048

KEY

neu, mem, ion, sign

CLA

coding, basic

LOC

11 q24

MIM

 MIM: 600359

Смотрите также:

  • Gene: [15q/SLC12A1] solute carrier family 12 (sodium/potassium/chloride transporters), member 1; Bartter syndrome, type 1 (hypokalemic alkalosis with hypercalciuria); [NKCC2 ]
  • Gene: [01p36/CLCNKB] chloride channel Kb (kidney); Bartter syndrome, type 3;