| 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 |
|
| 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) |
User Manual