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 |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Ozaltin F et al. (2013) DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. 
|
| 2. |
Lemaire M et al. (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
|
| 3. |
Hart TC et al. (1999) Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.
|
| 4. |
Tang W et al. (1996) Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates.
|
| 5. |
NCBI article NCBI 8526
|
| 6. |
OMIM.ORG article Omim 601440
|
| 7. |
Orphanet article Orphanet ID 330780
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
