Article
The characteristics and biological significance of NPC2: Mutation and disease.
Mutation research. Reviews in mutation research - 1 Jan 2000
Xu Yanan, Zhang Qian, Tan Liang, Xie Xubiao, Zhao Yong
Abstract excerpt
Niemann-Pick C disease (NPC) is a rare autosomal recessive disorder characterized by severe neurodegeneration of central nervous system. Linkage studies in multiplex NPC families and genetic complementation research revealed two disease genes, NPC1 and NPC2, both of which are important transporters for cholesterol trafficking. NPC2 executes cholesterol-transport function through protein-protein interaction with...
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