Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Diacylglycerol kinase, epsilon 64kDa

The DGKE gene encodes a diacylglycerol kinases which is involved in cell signal transduction in endothelial cells. Homozygous or compound heterozygous mutations are found in patients with congenital nephrotic syndrome type 7 or hemotytic uremic syndrome.

Genetests:

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

Related Diseases:

Congenital nephrotic syndrome type 07
DGKE

References:

1.

Hart TC et al. (1999) Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.

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2.

Ozaltin F et al. (2013) DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.

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3.

Lemaire M et al. (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

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4.

Tang W et al. (1996) Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates.

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Update: Sept. 26, 2018