Recombinant Human NPC1 Protein, N-His

Description of Recombinant Human NPC1 Protein, N-His

Introduction to Recombinant Human NPC1 Protein

Recombinant Human NPC1 Protein, also known as Niemann-Pick C1 protein, is a transmembrane glycoprotein that plays a crucial role in cholesterol transport and homeostasis. It is encoded by the NPC1 gene and is found in the lysosomal membrane of cells. Mutations in the NPC1 gene can lead to Niemann-Pick type C disease, a rare and progressive genetic disorder characterized by the accumulation of cholesterol and other lipids in various tissues of the body.

Structure of Recombinant Human NPC1 Protein

The primary structure of Recombinant Human NPC1 Protein consists of 1278 amino acids, with a molecular weight of approximately 140 kDa. It contains 13 transmembrane domains and a large N-terminal luminal domain. The luminal domain is responsible for binding to cholesterol and other lipids, while the transmembrane domains facilitate the transport of these molecules across the lysosomal membrane.

The crystal structure of Recombinant Human NPC1 Protein has been determined, revealing a unique and complex architecture. The luminal domain is composed of a series of β-sheet and α-helical structures, forming a cavity that can accommodate cholesterol molecules. The transmembrane domains are arranged in a spiral fashion, providing a pathway for the transport of lipids. The structure of Recombinant Human NPC1 Protein has shed light on its function and has also served as a target for drug development in the treatment of Niemann-Pick type C disease.

Activity of Recombinant Human NPC1 Protein

Recombinant Human NPC1 Protein plays a crucial role in the transport of cholesterol and other lipids from the lysosome to other cellular compartments. It functions as a cholesterol sensor, regulating the release of cholesterol from the lysosome into the cytosol. This process is essential for maintaining cellular cholesterol homeostasis and preventing the accumulation of cholesterol in the lysosome, which can lead to the development of Niemann-Pick type C disease.

In addition to its role in cholesterol transport, Recombinant Human NPC1 Protein also plays a role in the transport of other lipids, such as sphingosine and glycosphingolipids. It has been shown to interact with various proteins involved in lipid metabolism, further highlighting its importance in maintaining cellular lipid balance.

Application of Recombinant Human NPC1 Protein

The use of Recombinant Human NPC1 Protein in research has been instrumental in understanding the molecular mechanisms underlying Niemann-Pick type C disease. It has also been used in drug discovery efforts, as mutations in the NPC1 gene are the primary cause of this disorder. Recombinant Human NPC1 Protein has been used to screen for potential therapeutic compounds that can correct the dysfunction in cholesterol transport caused by NPC1 mutations.

Furthermore, Recombinant Human NPC1 Protein has also been used in diagnostic tests for Niemann-Pick type C disease. Antibodies against Recombinant Human NPC1 Protein can be used in immunohistochemistry and Western blotting to detect the presence of NPC1 protein in tissue samples, aiding in the diagnosis of this disorder.

Conclusion

In summary, Recombinant Human NPC1 Protein is a crucial player in the transport of cholesterol and other lipids, and its dysfunction can lead to the development of Niemann-Pick type C disease. The determination of its structure has provided valuable insights into its function and has opened up avenues for drug development and diagnostic testing. Further research on Recombinant Human NPC1 Protein and its role in lipid metabolism may lead to a better understanding and treatment of Niemann-Pick type C disease and other related disorders.