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NPC1

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted tohave a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - thelast loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomalcompartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Picktype C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation ofcholesterol and glycosphingolipids in late endosomal/lysosomal compartments.(provided by RefSeq, Aug 2009)

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain

It is predicted tohave a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - thelast loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomalcompartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Picktype C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation ofcholesterol and glycosphingolipids in late endosomal/lysosomal compartments.(provided by RefSeq, Aug 2009)

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