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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Authors: Ward, CJ  Hogan, MC  Rossetti, S  Walker, D  Sneddon, T  Wang, X  Kubly, V  Cunningham, JM  Bacallao, R  Ishibashi, M  Milliner, DS  Torres, VE  Harris, PC 
Citation: Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
Pubmed: (View Article at PubMed) PMID:11919560
DOI: Full-text: DOI:10.1038/ng833

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified. A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes. The PKHD1 transcript, approximately 16 kb long, is expressed in adult and fetal kidney, liver and pancreas and is predicted to encode a large novel protein, fibrocystin, with multiple copies of a domain shared with plexins and transcription factors. Fibrocystin may be a receptor protein that acts in collecting-duct and biliary differentiation.

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CRRD Object Information
CRRD ID: 70439
Created: 2002-04-05
Species: All species
Last Modified: 2002-04-05
Status: ACTIVE



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