| Protein Name | low density lipoprotein receptor |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 3949 |
| Gene Symbol | LDLR |
| UniProt | P01130 (LDLR_HUMAN), A0A024R7D5 (A0A024R7D5_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
826
Total Number of Articles : 2301 |
Description |
low density lipoprotein receptor |
| Gene Summary |
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022] |
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