Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage
disease. Fibroblasts from individuals with Niemann-Pick type C exhibit
defective intracellular cholesterol transport. Linkage analysis has l
ed to the recent cloning of the NPC1 gene on human chromosome 18, whic
h is the major disease locus. Analysis of NPC1 reveals homologies with
key regulators of cholesterol homeostasis and a Drosophila morphogen
receptor. (C) 1998 Rapid Science Ltd.