Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene product of PKD2 is a membrane protein that in its C terminus shows homology with Polycystin 1 the gene product of PKD1. Both play a role in tubular morphogenesis and either genes mutated results in autosomal dominant polycystic kidney disease.
The gene located on chromosome 4 (4q21-q23) spans over 68 kb. It consists of 15 exons. Translation starts in exon 1. The promoter has no TATA box but contains binding sits for various transcription factors, including E2F, EGRF, ETS, MZF1, SP1, and ZBP89.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
NCBI article NCBI 5311
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| 2. |
OMIM.ORG article Omim 173910
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| 3. |
Orphanet article Orphanet ID 117849
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| 4. |
Wikipedia article Wikipedia EN (Polycystin_2)
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