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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 07
DGKE

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

NCBI article

NCBI 8526 external link
6.

OMIM.ORG article

Omim 601440 external link
7.

Orphanet article

Orphanet ID 330780 external link
Update: Aug. 14, 2020
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