Glucosidase 2 subunit beta
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.
Genetests:
Related Diseases:
References:
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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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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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Li A et al. (2003) Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
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Drenth JP et al. (2003) Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
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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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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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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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NCBI article
NCBI 5589
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OMIM.ORG article
Omim 177060
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Orphanet article
Orphanet ID 118020
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11. |
Wikipedia article
Wikipedia EN (PRKCSH)
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Update: Aug. 14, 2020