Gene Symbol | PRKCSH |
Entrez Gene ID | 5589 |
Full Name | protein kinase C substrate 80K-H |
Synonyms | AGE-R2,G19P1,GIIB,PCLD,PCLD1,PKCSH,PLD1,VASAP-60 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Polycystic liver disease 1, 174050 (3) |