Glucosidase II is an acidic phosphoprotein enzyme located in the endoplasmic reticulum. The enzyme is responsible for N-linked glycan processing, the mechanism by which proteins undergo proper folding and quality control. The PRKCSH gene encodes the non-catalytic beta subunit of the glucosidase II enzyme. This beta subunit is essential for glucosidase II activity and carries an endoplasmic reticulum luminal retention signal.
Mutations in the PRKCSH gene have been associated with Polycystic Liver Disease 1 (PCLD1), a disorder characterized by multiple fluid filled cysts throughout the liver.
The PRKCSH gene is located on the short arm of chromosome 19. It spans a length of 15.7 kb of DNA and its coding sequence is spread across 18 exons. The gene encodes a 59.4 kDa protein product composed of 528 amino acids. An additional isoform of the PRKCSH gene exists due to an alternatively spliced transcript variant. The gene is widely expressed in the human body. Heterozygous mutations in the gene are associated with PCLD1. These include splice site mutations, insertions and transitions that result in premature termination.
Monies et al. (2017) studied the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 3-year-old male, presented with unexplained chronic liver failure and hyperbilirubinemia and was being considered for a liver transplant. Using a multigene panel for gastrointestinal disorders, a heterozygous mutation (c.1462-1G>C) was identified in exon 17 of the patient’s PRKCSH gene, associated with PCLD1. Identification of this mutation was very beneficial as it allowed the researchers to select an unaffected donor relative for the transplant. Further, as the patient had no cysts on ultrasonography, this case was representative of an atypical polycystic liver disease phenotype.
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