Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SEC63 gene encodes a protein of the translocation complex of the endoplasmatic reticulum. Mutations cause autosomal dominant polycystic liver disease type 2.
| 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. |
Fedeles SV et al. (2011) A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. 
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| 2. |
Davila S et al. (2004) Mutations in SEC63 cause autosomal dominant polycystic liver disease.
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| 3. |
Woollatt E et al. (1999) Human Sec63 endoplasmic reticulum membrane protein, map position 6q21.
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| 4. |
Skowronek MH et al. (1999) Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog.
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| 5. |
Meyer HA et al. (2000) Mammalian Sec61 is associated with Sec62 and Sec63.
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| 6. |
Müller L et al. (2010) Evolutionary gain of function for the ER membrane protein Sec62 from yeast to humans.
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| 7. |
NCBI article NCBI 11231
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| 8. |
OMIM.ORG article Omim 608648
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| 9. |
Orphanet article Orphanet ID 118567
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| 10. |
Wikipedia article Wikipedia EN (SEC63)
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