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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.

external link
2.

NCBI article

NCBI 4734 external link
3.

OMIM.ORG article

Omim 602278 external link
4.

Wikipedia article

Wikipedia EN (NEDD4) external link
Update: Aug. 14, 2020
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