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 Disease, Type C1. Among its related pathways are Innate Immune System and Plasma lipoprotein assembly, remodeling, and clearance.

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 cellular cholesterol by exportation of LDL-derived cholesterol from lysosomes.

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 related health conditions.

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 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 ...

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 water phase. NPC2 as a novel intracrine/autocrine factor that …

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 …

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 18q11-q12, spanning 56...

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 results in disease, we have characterized the structural and …

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 GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

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 sterol from the late E/L compartment was quantitatively different in …