PRKCSH
Description
The PRKCSH (PRKCSH beta subunit of glucosidase II) is a protein-coding gene located on chromosome 19.
The PRKCSH 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 that is a substrate for protein kinase C. Mutations in this gene have been associated with autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed.
PRKCSH is also known as 80K-H, AGE-R2, G19P1, GIIB, GIIbeta, GluIIbeta, PCLD, PCLD1, PKCSH, PLD1, VASAP-60.
