Gene: [16p12/SCNN1G] sodium channel, nonvoltage-gated 1 gamma; pseudohypoaldosteronism, type I (autosomal recessive; persian-jewish type; SCNN1G deficiency; MIM:264350); pseudoaldosteronism (Liddle syndrome; SCNN1G deficiency; MIM:177200);


REF

MUT "Hansson JH &: Nature Genet, 11, N1, 76-82, 1995
PAT,MUT "Strautnieks SS &: Nature Genet, 13, N2, 248-250, 1996
CLO,SEQ,LOC "Voilley N &: Genomics, 28, 560-565, 1995

SWI

 SWISSPROT: P51170

KEY

neu, sign, mem, myo, ion

CLA

coding, basic

LOC

16 p12.2-.1

MIM

 MIM: 600761

Смотрите также:

  • Gene: [12p13/SCNN1A] sodium channel, nonvoltage-gated 1 alpha; pseudohypoaldosteronism, type I (autosomal dominant; SCNN1A deficiency; MIM:177735); pseudohypoaldosteronism, type I (autosomal recessive; persian-jewish type; SCNN1A deficiency