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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
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.

external link
2.

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

external link
3.

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

external link
4.

Orphanet article

Orphanet ID 120531 external link
5.

NCBI article

NCBI 65125 external link
6.

OMIM.ORG article

Omim 605232 external link
7.

Wikipedia article

Wikipedia EN (WNK1) external link
Update: Aug. 14, 2020
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