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.

2020年6月15日，普林斯顿大学颜宁教授与新南威尔士大学杨洪远教授合作在Cell杂志上发表了题为Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2 的研究论文。 该研究通过Cryo-EM技术对NPC相关蛋白进行了系统的结构解析，完整呈现了胆固醇从NPC2转运到NTD，然后转运到NPC1跨膜区的过程，并揭示了pH值对与NPC1结构和功能的影响。 NPC1包含1278个氨基酸，定位在内体和溶酶体膜上。

2020年6月16日 · NPC2是一个可溶蛋白，而NPC1是一个膜蛋白。它由13个跨膜螺旋和3个位于腔内侧的可溶结构域（即NTD、domain C、domain I）组成。其中，第3~7个跨膜螺旋构成了一个保守的固醇感知结构域（SSD）。 在Ptch1的研究中，SSD已被证明可以结合胆固醇类分子。

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 ...

2020年6月15日，普林斯顿大学 颜宁 教授与新南威尔士大学 杨洪远 教授合作在 Cell 杂志上发表了题为 Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2 的研究论文。 该研究通过Cryo-EM技术对NPC相关蛋白进行了系统的结构解析，完整呈现了胆固醇从NPC2转运到NTD，然后转运到NPC1跨膜区的过程，并揭示了pH值对与NPC1结构和功能的影响。 NPC1包含1278个氨基酸，定位在内体和溶酶体膜上。

2025年2月8日 · Recombinant NPC2 protein increases triglyceride levels in body fat. these results suggest that the vitamin A-mediated antimicrobial mechanism against M. tuberculosis requires NPC2-dependent expression and function, indicating a key role for cellular cholesterol regulation in the innate immune response.

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.

该基因编码一种含有脂质识别结构域的蛋白质。 编码的蛋白质可能通过晚期内体/溶酶体系统调节胆固醇的转运。 该基因的突变与尼曼匹克病、C2 型和额叶萎缩有关。 [RefSeq 提供，2008 …

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 …