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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:

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

Related Diseases:

Polycystic liver disease 1
PRKCSH

References:

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 external link
9.

OMIM.ORG article

Omim 177060 external link
10.

Orphanet article

Orphanet ID 118020 external link
11.

Wikipedia article

Wikipedia EN (PRKCSH) external link
Update: Aug. 14, 2020
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