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autosomal dominant polycystic liver disease


Monday 6 October 2003

Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD).


- 19p13.2-p13.1: mutations in PRKCSH gene (MIM.177060), encoding hepatocystin, the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER) (12529853)

- - 6q21: mutations in SEC63 gene, encoding a component of the protein translocation machinery in the ER (15133510)


- Drenth JP, Martina JA, van de Kerkhof R, Bonifacino JS, Jansen JB. Polycystic liver disease is a disorder of cotranslational protein processing. Trends Mol Med. 2005 Jan;11(1):37-42. PMID: 15649821

- Everson GT, Taylor MR, Doctor RB. Polycystic disease of the liver. Hepatology. 2004 Oct;40(4):774-82. PMID: 15382167

- Harris PC. Autosomal dominant polycystic kidney disease: clues to pathogenesis. Hum Mol Genet. 1999;8(10):1861-6. PMID: 10469838

- MIM.174050.
- Locus:19p13.2-p13.1