The protein product of the NEDD4 gene plays an important role in inactivation of the aldosterone-sensitive sodium channel. Dysfunction is associated with Liddle syndrome.
The protein contains a WW domain, which binds with the PP.Y domain of the gamma and beta subunits of the aldosterone-sensitive sodium channel (ENaC). This interaction leads to ubiquitylation, internalization, and finally inactivation of the channel.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 25 days | |
Specimen type | genomic DNA |
1. |
Abriel H et al. (1999) Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. |
2. |
NCBI article NCBI 4734 |
3. |
OMIM.ORG article Omim 602278 |
4. |
Wikipedia article Wikipedia EN (NEDD4) |