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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