GeneID: 118
Names
| Common Name: | LDLR | Type: | Gene |
|---|---|---|---|
| Chromosome: | 19 (NC_000019.10) | Locus: | NG_009060.1 (LDLR) |
| HUGO Symbol: | LDLR | Full Name: | low density lipoprotein receptor |
| Exons: | 18 | Introns: | 17 |
Description:
The encoded protein is a surface membrane receptor that plays a key role in cholesterol homeostasis. It mediates the cellular uptake of plasma lipoproteins from circulating blood via clathrin-mediated endocytosis. The internalized lipoprotein is metabolized within lysosomes, releasing cholesterol and other lipids, while the LDL receptor recycles back to the surface. LDLR also serves as a cellular entry port for several viruses, including the vesicular stomatitis virus (VSV) and other VSV-G-pseudotyped lentiviruses. Mutations in this gene cause familial hypercholesterolemia and premature coronary artery disease. Polymorphisms in this gene associated with stroke in sickle cell patients. Alternate splicing results in multiple transcript variants.
Synonyms: FH , FHC , LDLCQ2
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Agnello V, Abel G, Elfahal M, Knight GB, Zhang QX, Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor., Proc. Natl. Acad. Sci. U.S.A. , 96(22), 12766-71, 1999
- Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, , Gene interactions and stroke risk in children with sickle cell anemia., Blood , 103(6), 2391-6, 2004
- Go GW, Mani A, Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis., Yale J Biol Med , 85(1), 19-28, 2012
- Finkelshtein D, Werman A, Novick D, Barak S, Rubinstein M, LDL receptor and its family members serve as the cellular receptors for vesicular stomatitis virus., Proc. Natl. Acad. Sci. U.S.A. , 110(18), 7306-11, 2013