Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein kinase, lysin-deficient 4

A protein kinase being involved in signal transduction is coded by this gene, whose mutations cause pseudohypoaldosteronism 2.

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

Related Diseases:

Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4

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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4.

NCBI article

NCBI 65266 [^]
5.

OMIM.ORG article

Omim 601844 [^]
6.

Orphanet article

Orphanet ID 120534 [^]
7.

Wikipedia article

Wikipedia EN (WNK4) [^]
Update: April 29, 2019