Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neural precursor cell expressed, developmentally downregulated 4

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.

Pathology

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.

Genetests:

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

Related Diseases:

Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39

References:

1.

Abriel H et al. (1999) Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome.

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2.

NCBI article

NCBI 4734 [^]
3.

OMIM.ORG article

Omim 602278 [^]
4.

Wikipedia article

Wikipedia EN (NEDD4) [^]
Update: April 29, 2019