Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PRKCSH gene encodes a glycosidase which is involved in glycan formation in the endoplasmatic reticulum. Mutations cause autosomal dominant polycastic liver disease type 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. |
Trombetta ES et al. (1996) Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit. 
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| 2. |
Reynolds DM et al. (2000) Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.
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| 3. |
Li A et al. (2003) Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
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| 4. |
Drenth JP et al. (2003) Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
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| 5. |
Sakai K et al. (1989) Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein.
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| 6. |
Gao H et al. (2010) PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
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| 7. |
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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| 8. |
NCBI article NCBI 5589
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| 9. |
OMIM.ORG article Omim 177060
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| 10. |
Orphanet article Orphanet ID 118020
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| 11. |
Wikipedia article Wikipedia EN (PRKCSH)
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