PKHD1, THE POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE

摘要

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and is characterized by enlarged kidneys and congenital hepatic ubrosis. We have identified PKHD1, the gene mutaded in ARPKD. PKHD1 extends over 469 kb, is primarily expressed in fetal and adult kidney and includes at least 86 exons that are variably assembled into a number of alternatively spliced transcripts.