Anti-Niemann Pick C1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Niemann Pick C1 also known as NPC1 or C1 protein is an integral membrane protein involved in cholesterol and lipid transport within cells. It is located in late endosomes and lysosomes and plays a role in intracellular cholesterol traffic. The NPC1 protein has a molecular weight of approximately 170 kDa. It is expressed in various tissues with high expression levels in the liver brain and spleen.

Biological function summary

This protein acts in the movement of lipids and cholesterol through cellular compartments. NPC1 functions as part of a protein complex that includes NPC2 which works to mobilize cholesterol from lysosomes to other areas in the cell where it is further processed or stored. This transport mechanism is necessary to maintain cellular lipid homeostasis and proper cellular functions.

Pathways

NPC1 integrates into the cholesterol trafficking pathway and plays an essential part in intracellular lipid regulation. It interacts with proteins involved in cholesterol metabolism such as sterol regulatory element-binding proteins (SREBPs). These interactions ensure that cholesterol distribution within the cell remains balanced and adjusts to metabolic needs. The proper function of NPC1 in these pathways is necessary for maintaining cell health and homeostasis.

Associated diseases and disorders

NPC1 mutations are directly linked to Niemann-Pick disease type C a severe lipid storage disorder. This condition is characterized by the accumulation of cholesterol and other lipids in lysosomes leading to neurological and hepatic dysfunction. NPC1's role in this disease involves disrupted cholesterol trafficking which is critical for cellular lipid homeostasis. Additionally NPC2 protein is also affected in this disorder as both work together in the cholesterol transport process.