2025年3月30日 · NPC2 (NPC Intracellular Cholesterol Transporter 2) is a Protein Coding gene. Diseases associated with NPC2 include Niemann-Pick Disease, Type C2 and Niemann-Pick …

2019年10月1日 · Niemann–Pick C disease (NPC) is a rare autosomal recessive disorder characterized by severe neurodegeneration of central nervous system. Linkage studies in …

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 …

The NPC2 gene provides instructions for making a protein that is located inside lysosomes, which are compartments in the cell that digest and recycle materials. Learn about this gene and …

2025年2月8日 · NPC2 protein interacts N-ternimal domain of NPC1 protein, thereby opening an entry pore on NPC1 protein and allowing cholesterol to transfer without passing through the …

2019年10月1日 · About 50 clinical cases have been reported documenting over twenty different mutations of NPC2 in NPC patients so far. In this review, we will mainly summarize the …

Niemann-Pick disease type C2 is caused by changes in the NPC2 gene and is inherited in an autosomal recessive manner. Niemann-Pick disease type C2 is a rare metabolic condition that …

2004年10月11日 · The NPC2 protein binds cholesterol with submicromolar affinity at neutral and acidic pH. The bovine protein has been crystallized, and the cholesterol-binding site assigned …

NPC2 accelerates both the binding and release of cholesterol by NPC1(NTD). These findings suggest that NPC2 functions to transfer cholesterol to and/or from NPC1, thereby explaining …

Identification of the two genes that underlie NPC disease, NPC1 and NPC2, has focused attention on the mechanisms by which lipids, in particular cholesterol, are transported out of the LE/LY …