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:
Related Diseases:
References:
1. |
Cope G et al. (2005) WNK kinases and the control of blood pressure.
|
2. |
Hadchouel J et al. (2006) Familial hyperkalemic hypertension.
|
3. |
Subramanya AR et al. (2006) WNK kinases regulate sodium chloride and potassium transport by the aldosterone-sensitive distal nephron.
|
4. |
Orphanet article
Orphanet ID 120531
|
5. |
NCBI article
NCBI 65125
|
6. |
OMIM.ORG article
Omim 605232
|
7. |
Wikipedia article
Wikipedia EN (WNK1)
|
Update: Aug. 14, 2020