Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The OCRL gene encodes phosphatidylinositol 4,5-bisphosphate-5-phosphatase and may be involved in such x-linked recessive disorders as Lowe and Dent disease.
The gene encodes en enzyme, 4,5-bisphosphate-5-phosphatase, which is ubiquitously distributed in the Golgi apparatus.
Two different diseases are associated with mutations of the OCRL1 gene. These are Lowe syndrome and Dent disease. The latter however occurs only in some specific mutations.
Pathomechanisms theat link the mutation to the clenical features are not fully understood yet. It is discussed that dysfunction may alter a cell's polarity, which seems to be of particular importance in renal tubular and corneal cells. Also, it is observed that patients urinary megalin excretion is low, which indicates a disturbed recycling process.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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