2024年12月25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 …

The epididymal secretory protein E1, also known as NPC2 (Niemann-Pick intracellular cholesterol transporter 2), is one of two main lysosomal transport proteins that assist in the regulation of …

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 …

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 …

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 …

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 …

2023年8月11日 · NPC disease is a progressive neurovisceral autosomal recessive LSD caused by loss of function variants in the NPC1 or NPC2 genes 7, 8. NPC1 is located on chromosome …

One form of the disease is caused by a deficiency in NPC2, a soluble lysosomal glycoprotein that binds cholesterol. To better understand the biological function of NPC2 and how its deficiency …

2016年10月19日 · Clinical resource with information about NPC2, Niemann-Pick disease, type C2, and available tests. There are links to practice guidelines and authoritative resources like …

2025年2月8日 · NPC2 is a positive regulator of biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport. Studies showed that processing and export of …