The gene codes for the beta subunit of the epithelial sodium channel, which regulates aldosteron dependend excretion of sodium in distal nephrons. Gain-of-function mutations result in Liddle syndrome whereas loss-of-function mutations lead to autosomal recessive Pseudohypoaldosteronism 1.
The gene is located on chromosome 16 (16p12.2-p12.1). The 13 exons are spread over 19kb. Translation starts in exon 2.
Opposite phenotypes result depending on whether a gain- or loss-of-function mutation is present.
The aldosteron-sensitive distal nephron consists of distal convoluted tubule (DCT), the connecting tubule (CNT), and the collecting duct (CD). This part of the nephron is characterized by the colocalization of the epithelial sodium channel (ENaC), the mineralocorticoid receptor, and the 11-beta hydroxysteroid dehydrogenase type 2. The gene codes for the beta subunit of the channel. Gain-of-function mutations result in Liddle syndrome whereas loss-of-function mutations lead to Pseudohypoaldosteronism.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Swift PA et al. (2004) The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride. |
2. |
Orphanet article Orphanet ID 118536 |
3. |
NCBI article NCBI 6338 |
4. |
OMIM.ORG article Omim 600760 |
5. |
Wikipedia article Wikipedia EN (SCNN1B) |