polycystic liver disease 2

Summary
Synonym
  • POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Definition
A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21.
Super Class
polycystic liver disease
Disease Ontology
DOID:0060975
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11231 SEC63 SEC63 homolog, protein translocation regulator
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UGP8 Translocation protein SEC63 homolog

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026