PRKCSH Recombinant Monoclonal Antibody

1. Results suggest that loss of PRKCSH and SEC63 leads to general defects in ciliogenesis, while quenching of the Wnt signaling cascade is cholangiocyte-restricted. PMID: 28973524
2. This study demonstrated that Large copy number variations on germline level are not present in patients with a clinical diagnosis of Severe Polycystic Liver Disease. PMID: 26365003
3. Polycystic liver disease is recessive at the cellular level, and loss of functional PRKCSH is an important step in cystogenesis. PMID: 21856269
4. The induction of autophagy by hepatocystin deficiency is mediated through mammalian target of rapamycin (mTOR). PMID: 21681021
5. Results provide evidence that mutations at the coding PRKCSH GAG repeat are a target of MSI and are selectively associated with the MSI-H phenotype in gastric carcinomas. PMID: 21371016
6. The common SNPs tested in DDOST, PRKCSH and LGALS3 do not seem to be associated with diabetic micro- or macrovascular complications or with type 1 diabetes in Finnish patients. PMID: 20490454
7. identified a total of 26 novel mutations in PRKCSH (n = 14) and SEC63 (n = 12), including four splice site mutations, eight insertions/ deletions, six non-sense mutations, and eight missense mutations PMID: 20095989
8. Our results suggest that PRKCSH gene is not a major genetic cause of PCLD and there may be at least another locus responsible for the disease in Taiwan. PMID: 19308730
9. PRKCSH functions as a chaperone-like molecule, which prevents endoplasmic reticulum-associated degradation of TRPP2. PMID: 19801576
10. Mutations in this protein cause isolated autosomal dominant polycystic liver disease. PMID: 12529853
11. germline mutations in PRKCSH as the probable cause of autosomal dominant polycystic liver disease PMID: 12577059
12. autosomal dominant polycystic liver disease is genetically heterogeneous PMID: 15057895
13. role of hepatocystin in carbohydrate processing and quality control of newly synthesized glycoproteins in the endoplasmic reticulum PMID: 15188177
14. results identify 80K-H as a new player involved in GLUT4 vesicle transport and identify a link between a kinase involved in the insulin signalling cascade, PKCzeta, and a known component of the GLUT4 vesicle trafficking pathway, munc18c PMID: 15707389
15. the majority of cysts from PRKCSH mutation carriers did not express hepatocystin PMID: 18224332
16. Hepatocystin is not secreted in liver cyst fluids of autosomal dominant polycystic liver disease patients, suggesting that mutant hepatocystin is either not produced or degraded intracellularly. PMID: 18419150
17. 80K-H is a novel regulator of IP3R1 activity, and it may contribute to neuronal functions. PMID: 18990696
18. These results indicate that insulin induces dynamic associations between PKCzeta, 80K-H, and munc18c and that 80K-H may act as a key signaling link between PKCzeta and munc18c in live cells. PMID: 19061073

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HGNC: 9411

OMIM: 174050

KEGG: hsa:5589

STRING: 9606.ENSP00000252455

UniGene: Hs.610830