Gene: PRKCSH

Alternate names for this Gene: AGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: protein kinase C substrate 80K-H

Type of Gene: protein-coding

rs313624 in PRKCSH gene and Hypercholesterolemia, Familial PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.