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SCNN1A - sodium channel epithelial 1 subunit alpha
- Synonym(s) : amiloride-sensitive sodium channel subunit alpha, ENaCalpha
- Previous symbols and names : SCNN1, Sodium channel, nonvoltage-gated 1 alpha, sodium channel, non voltage gated 1 alpha subunit, sodium channel, non-voltage-gated 1 alpha, sodium channel, non-voltage-gated 1 alpha subunit
- Type : gene with protein product
- Chromosomal location : 12p13
- OMIM: 600228
- HGNC: 10599
- UniProtKB: P37088
- Genatlas: SCNN1A
- GenCC: SCNN1A
- Ensembl: ENSG00000111319
- IUPHAR-DB: 738
- Reactome: P37088
- LOVD: SCNN1A
Diseases list
- Disease-causing germline mutation(s) in Brugada syndrome
ORPHA:130 
- Disease-causing germline mutation(s) in Idiopathic bronchiectasis
ORPHA:60033 - Disease-causing germline mutation(s) (loss of function) in Generalized pseudohypoaldosteronism type 1
ORPHA:171876 - Disease-causing germline mutation(s) (gain of function) in Liddle syndrome
ORPHA:526
: AssessedAdditional information
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