Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations in LRP2 gene cause autosomal recessive Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).
Megalin, the product of the LRP2 gene, belongs to the LDL receptor family. I consists of a huge extracellular domain (4398 amino acids), a single transmembrane segment, and a short cytoplsmatic tail (209). The extracellular domain contains 36 cysteine-rich complement-type repeats in four clusters, 16 growth factor repeats separated by 8 YWTD spacers, and a single epidermal growth factor-like repeat. The intracellular domain contains 2 endocytic motifs (NPXY), 1 NPXY-like motif (NQNY), 1 SH3 domain, 1 PDZ domain, and phosphorylation sites.
| 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 | 25 days | |
| Specimen type | genomic DNA |
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