Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ubiquitin protein ligase NEDD4-like

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.

Gene Structure

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.

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:

Research Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39

References:

1.

Warnock DG et al. (2001) Liddle syndrome: genetics and mechanisms of Na+ channel defects.

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2.

Rossier BC et al. (2004) The epithelial sodium channel: activation by membrane-bound serine proteases.

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3.

Umemura M et al. (2006) Transcriptional diversity and expression of NEDD4L gene in distal nephron.

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Update: Sept. 26, 2018