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GENATLAS PHENOTYPE

last update : 10-09-2011

Symbol	PCLD2
Location	6q21
Name	polycystic liver disease 2
Corresponding gene	SEC63
Main clinical features	mild hepatomegaly without cysts in the kidneys, pancreas, or spleen characterized by the presence of multiple cysts in the liver in the absence of polycystic kidneys (PMID: 20408955))
Genetic determination	autosomal dominant
Function/system disorder	digestive tract/liver and annex
Type	disease

Gene product

Name	SEC63-like (S. cerevisiae)

Remark(s)

mutations in PRKCSH and SEC63 result in impaired protein biogenesis and quality control and lead to formation of misfolded proteins that undergo retro-translocation and degradation using proteasome-mediated mechanisms proteasome inhibition increases steady-state levels of PKD1 in cells lacking PRKCSH and treatment with a proteasome inhibitor reduces cystic disease in orthologous gene models of human autosomal dominant polycystic liver disease (PMID: 21685914))