Scientific Name: Pyrrhura molinae
Taxonomy: Cellular organisms-> Eukaryota-> Opisthokonta-> Metazoa-> Eumetazoa-> Bilateria-> Deuterostomia-> Chordata-> Craniata-> Vertebrata-> Gnathostomata-> Teleostomi-> Euteleostomi-> Sarcopterygii-> Dipnotetrapodomorpha-> Tetrapoda-> Amniota-> Sauropsida-> Sauria-> Archelosauria-> Archosauria-> Dinosauria-> Saurischia-> Theropoda-> Coelurosauria-> Aves-> Neognathae-> Psittaciformes-> Psittacidae-> Pyrrhura
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] [NCBI] [Proteinatlas]
Data set information
| Project | Date | Technology | Tissue | Condition | Cell | PMID/DOI |
|---|---|---|---|---|---|---|
| Vthunter_0052 | 2021.04 | iDrop | PBMC | Normal | 9256 | Link |
Featureplot of receptors
Expression: Ubiquitous expression in adrenal (RPKM 13.9), brain (RPKM 10.0) and 24 other tissues?
