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; MIM:264350);

MOP

SCNN1 is a heterotrimer of alpha, beta (GEM:16p12/SCNN1B), and gamma (GEM:16p12/SCNN1G) subunits. A delta (GEM:01p36/SCNN1D) subunit can replace the alpha subunit ."

REF

LOC "Baens M &: Genomics, 29, 44-52, 1995
MOP "Canessa CM &: Nature, 367, 463-467, 1994
MUT,PAT "Chang SS &: Nature Genet, 12, 248-253, 1996
PAT,MCH "Hummler E &: Nature Genet, 12, 325-328, 1996
CLO,SEQ "McDonald FJ &: Am J Physiol, 266, L728-734, 1994
LOC "Meisler MH &: Genomics, 24, 185-186, 1994
LOC "Raeymaekers P &: Genomics, 29, 170-178, 1995
CLO,SEQ "Voilley N &: PNAS, 91, 247-251, 1994

SWI

SWISSPROT: P37088

KEY

neu, sign, mem, myo, ion

CLA

coding, basic

LOC

12 p13

MIM

MIM: 600228

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