Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein kinase, lysin-deficient 1

The WNK1 gene encodes a cytoplasmic serine-threonine kinase that plays an important role in signal transduction in the distal nephron. Mutations that cause an activation result in pseudohypoaldosteronism type 2 whereas loss-of-function mutations cause a hereditary sensory and autonomic neuropathy.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Hereditary sensory and autonomic neuropathy type 2A
WNK1

References:

1.

Cope G et al. (2005) WNK kinases and the control of blood pressure.

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2.

Hadchouel J et al. (2006) Familial hyperkalemic hypertension.

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3.

Subramanya AR et al. (2006) WNK kinases regulate sodium chloride and potassium transport by the aldosterone-sensitive distal nephron.

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Update: Sept. 26, 2018