Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Serine threonine kinase 39

There gene product is a threonine kinase downstream the signal cascade from WNK kinases to SLC12A cotransporters. Therefor it may play a significant role in regulation of electrolyte excretion in the distal tubule.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39

References:

1.

Johnston AM et al. (2000) SPAK, a STE20/SPS1-related kinase that activates the p38 pathway.

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2.

Wang Y et al. (2009) From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.

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3.

Cunnington MS et al. (2009) STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression.

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Update: Sept. 26, 2018