XB-FEAT-984653

npc1

This is the community wiki page for the gene npc1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

summary from NCBI

In Humans: 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]

nomenclature changes

1/6/2015 Human symbol has changed for genepage ID: 984653 From npca1 to NPC1

1/15/2015 Human symbol has changed for genepage ID: 984653 From npc1 to NPCA1

3/9/2015 Human symbol has changed for genepage ID: 984653 From npca1 to NPC1

11/07/2016 Human symbol has changed for genepage ID: 984653 From npc1 to NPCA1

Human name has changed for Entrez Gene: 4864. From Niemann-Pick disease, type C1 to NPC intracellular cholesterol transporter 1.

07/31/2017 Human symbol has changed for genepage ID: 984653 From npca1 to NPC1

Curators notes: this gene name has been switching back and forth in 'Entrez gene name curation issies reports' . Wee expect because there are 2 human entrez genes links to this gene page. To clarify, I have deleted the symbol npca1 from this gene page, and added temporarily the old name as a synonym, 'Niemann-Pick disease, type C1'.