Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The DAAM2 gene encodes a protein, disheveled-associated activator of morphogenesis 2, which is involved in ubiquitin degradation of VHL. Mutations cause autosomalrecessive congenital nephrotic syndrome type 24.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Nagase T et al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. 
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| 2. |
Habas R et al. (2001) Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1.
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| 3. |
Hetheridge C et al. (2012) The formin FMNL3 is a cytoskeletal regulator of angiogenesis.
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| 4. |
Zhu W et al. (2017) Daam2 driven degradation of VHL promotes gliomagenesis.
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| 5. |
Schneider R et al. (2020) DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
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