Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene …

The NPC1 gene provides instructions for making a protein that is located within the membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle materials.

2024年12月25日 · NPC1 (NPC Intracellular Cholesterol Transporter 1) is a Protein Coding gene. Diseases associated with NPC1 include Niemann-Pick Disease, Type C1 and Niemann-Pick …

2023年7月5日 · We identify upregulation of genes associated with neurogenesis and synapse formation in Npc1−/− oligodendrocyte lineage cells, reflecting diminished gene silencing by …

Gene ID: 4864, updated on 8-Feb-2025. This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol …

2021年2月24日 · We discovered pathological proteomic signatures and phenotypes in NPC1-deficient murine models and demonstrate a cell autonomous function of NPC1 in microglia. …

Cholesterol export requires NPC intracellular cholesterol transporter 1 (NPC1) and NPC2, genetic mutations of which can cause Niemann–Pick type C disease, a disorder characterized by …

2016年6月2日 · Niemann-Pick disease type C (NPC) is associated with mutations in NPC1 and NPC2, whose gene products are key players in the endosomal/lysosomal egress of low …

2021年6月9日 · CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin.

2024年3月5日 · Clinical resource with information about NPC1, Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations., …