PRKCSH

PRKCSH (Protein Kinase C Substrate 80K-H) is a protein that in humans is encoded by the PRKCSH gene. This protein is also known as Glucosidase II Subunit Beta and is involved in the process of protein folding and quality control within the endoplasmic reticulum (ER).

Function

The PRKCSH protein is a component of the glucosidase II complex, which is involved in protein folding and quality control in the ER. The glucosidase II complex is responsible for removing two glucose residues from N-linked glycans on newly synthesized proteins to prepare them for subsequent folding and modification. The PRKCSH subunit of the complex does not have glucosidase activity, but it is necessary for the stability and function of the complex.

Clinical significance

Mutations in the PRKCSH gene are associated with autosomal dominant polycystic liver disease (PCLD). PCLD is a rare genetic disorder characterized by the growth of numerous cysts in the liver, which can lead to various complications such as abdominal pain, liver failure, and bleeding cysts.

See also

• Protein Kinase C
• Endoplasmic reticulum
• Polycystic liver disease