| PRKCSH |
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| Identifiers |
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| Aliases | PRKCSH, AGE-R2, G19P1, PCLD, PKCSH, PLD1, GIIB, VASAP-60, protein kinase C substrate 80K-H, PCLD1 |
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| External IDs | OMIM: 177060; MGI: 107877; HomoloGene: 2056; GeneCards: PRKCSH; OMA:PRKCSH - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 9 (mouse) |
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| | Band | 9 A3|9 8.04 cM | Start | 21,914,102 bp |
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| End | 21,925,518 bp |
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| Wikidata |
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Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.
This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed.