PRKCSH Chromosome 19
PRKCSH beta subunit of glucosidase II
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What This Gene Does
This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"EF-hand domain containing|MRH domain containing "
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000130175
Associated Conditions (13)
Polycystic liver disease 1
Inborn genetic diseases
PRKCSH-related disorder
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Malignant lymphoma
large B-cell
diffuse
Gastric cancer
Malignant tumor of urinary bladder
Malignant tumor of esophagus
See cases
Autosomal dominant polycystic liver disease
Key Variants
RS138505797
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Polycystic liver disease 1
Health Risk
RS139214550
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Inborn genetic diseases, Polycystic liver disease 1
Health Risk
RS139991238
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Polycystic liver disease 1
Health Risk
RS141301073
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Polycystic liver disease 1
Health Risk
RS142339453
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Inborn genetic diseases, Polycystic liver disease 1
Health Risk
RS144616910
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Inborn genetic diseases, Polycystic liver disease 1
Health Risk
RS147043213
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Inborn genetic diseases, Polycystic liver disease 1
Health Risk
RS150738221
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Polycystic liver disease 1
Health Risk
RS151207349
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Polycystic liver disease 1
Health Risk
RS200168017
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Inborn genetic diseases, PRKCSH-related disorder
Health Risk
RS201385707
Conflicting classifications of pathogenicity
Polycystic liver disease 1, Inborn genetic diseases, Polycystic liver disease 1
Health Risk
RS201507518
Conflicting classifications of pathogenicity
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398123688 | Health Risk | Pathogenic | — |
| RS757957327 | Health Risk | Pathogenic | Polycystic liver disease 1, Polycystic liver disease 1 |
| RS774233325 | Health Risk | Pathogenic | Polycystic liver disease 1, Polycystic liver disease 1 |
| RS779685748 | Health Risk | Pathogenic | Polycystic liver disease 1, Autosomal dominant polycystic liver disease, PRKCSH-related disorder |
| RS794727187 | Health Risk | Pathogenic | — |
| RS1970439370 | Health Risk | Pathogenic/Likely pathogenic | — |