Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 1. |
Ozaltin F et al. (2013) DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. 
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| 2. |
Lemaire M et al. (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
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| 3. |
Hart TC et al. (1999) Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.
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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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| 5. |
NCBI article NCBI 8526
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| 6. |
OMIM.ORG article Omim 601440
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| 7. |
Orphanet article Orphanet ID 330780
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