Protein Summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.

Gene names and symbols associated with NPC1

• NPC intracellular cholesterol transporter 1 (NPC1) antibody
• Niemann-Pick disease, type C1 (npc1) antibody
• Niemann-Pick C1 protein (LOC579887) antibody
• NPC intracellular cholesterol transporter 1 (Npc1) antibody

• A430089E03Rik antibody
• C85354 antibody
• Cdig2 antibody
• D18Ertd139e antibody
• D18Ertd723e antibody
• Show all synonym aliases
• im:7149020 antibody
• lcsd antibody
• nmf164 antibody
• NPC antibody
• spm antibody
• wu:fb53a12 antibody
• wu:fc29a12 antibody

Protein level used designations for NPC1

Niemann-Pick C1 protein , Niemann-Pick type C1 disease protein , Nasopharyngeal carcinoma 1 , Niemann-Pick C1 , Niemann-Pick disease, type C1 , sphingomyelinosis , Niemann-Pick C disease protein