Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CCBE1 gene encodes a protein which is involved in extracellular matrix regulation and functions as a tumor suppressor. Mutations cause autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome 1.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Connell F et al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 
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| 2. |
Alders M et al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
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| 3. |
Nagase T et al. (2001) Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.
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| 4. |
Hogan BM et al. (2009) Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.
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| 5. |
NCBI article NCBI 147372
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| 6. |
OMIM.ORG article Omim 612753
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| 7. |
Orphanet article Orphanet ID 220744
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| 8. |
Wikipedia article Wikipedia EN (CCBE1)
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