The protein product of the NEDD4L gene plays an important role in inactivation of the aldosterone-sensitive sodium channel. Dysfunction is associated with Liddle syndrome.
The locus of this gene is 18q21. It spans about 400kb and consists of at least 40 exons. Several different splice variants are expressed in a tissue specific manner.
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 | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Research | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
None (2001) Liddle syndrome: genetics and mechanisms of Na+ channel defects. |
2. |
None (2004) The epithelial sodium channel: activation by membrane-bound serine proteases. |
3. |
Umemura M et al. (2006) Transcriptional diversity and expression of NEDD4L gene in distal nephron. |
4. |
NCBI article NCBI 23327 |
5. |
OMIM.ORG article Omim 606384 |
6. |
Orphanet article Orphanet ID 470768 |
7. |
Wikipedia article Wikipedia EN (NEDD4L) |