Entrez gene ID | | 5589 |
Official gene symbol | | PRKCSH |
Full name | | protein kinase C substrate 80K-H |
Aliases | | ,AGE-R2,G19P1,PCLD,PLD1, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19p13.2 |
Gene position | | 11546269 - 11561783 Map Viewer |
Gene orientation | | plus |
Gene size | | 15515 bp |
Gene sequence |
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OMIM ID | | 177060 |
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