Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
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