Gene: SCNN1B

Alternate names for this Gene: BESC1|ENaCb|ENaCbeta|LIDLS1|SCNEB

Gene Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.2

Description of this Gene: sodium channel epithelial 1 subunit beta

Type of Gene: protein-coding

rs137852709 in SCNN1B gene and BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 PMID 19017867 2009 Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

PMID 18507830 2008 Could a defective epithelial sodium channel lead to bronchiectasis.

PMID 16207733 2005 Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

rs137852704 in SCNN1B gene and Decreased circulating renin level PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

rs137852704 in SCNN1B gene and Hypertensive disease PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

rs137852704 in SCNN1B gene and Hypokalemia PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

rs137852704 in SCNN1B gene and Liddle Syndrome PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

PMID 7550319 1995 Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

PMID 8524790 1995 A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

PMID 15483078 2005 Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

PMID 9626162 1998 A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.

PMID 9794716 1998 Genetic analysis of the epithelial sodium channel in Liddle's syndrome.

PMID 8601645 1996 Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

rs137852704 in SCNN1B gene and Metabolic alkalosis PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

rs137852704 in SCNN1B gene and Pseudohypoaldosteronism PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

rs137852706 in SCNN1B gene and Pseudohypoaldosteronism, Type I, Autosomal Recessive PMID 8589714 1996 Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.