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PRKCSH

hepatocystin

 
The protein product of the PRKCSH gene is reported as hepatocystin and predicted it to be localized to the endoplasmic reticulum. MIM.177060. Locus:19p13.2-p13.1

Function

PRKCSH encodes a previously described human protein termed "protein kinase C substrate 80K-H" or "noncatalytic beta-subunit of glucosidase II." This protein is highly conserved, is expressed in all tissues tested, and contains a leader sequence, an LDLa domain, two EF-hand domains, and a conserved C-terminal HDEL sequence. Its function may be dependent on calcium binding, and its putative actions include the regulation of N-glycosylation of proteins and signal transduction via fibroblast growth-factor receptor.

Pathology

-  mutations in autosomal dominant polycystic liver disease (#12529853#)

In light of the focal nature of liver cysts in ADPLD, the apparent loss-of-function mutations in PRKCSH, and the two-hit mechanism operational in dominant polycystic kidney disease, ADPLD may also occur by a two-hit mechanism.

MIM.177060

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