NPC1 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.[provided by RefSeq, Aug 2009]

NPC1 Details

Gene Symbol : NPC1

Gene Name : NPC intracellular cholesterol transporter 1

Chromosome : CHR 18: 235,866,16-235,061,83

Locus : 18q11.2

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TTC39C Details

Gene Symbol : TTC39C

Gene Name : Tetratricopeptide repeat domain 39C

Chromosome : CHR 18: 239,927,72-241,359,51

Locus : 18q11.2

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