| GENE NAME | LDLR |
| CHROMOSOME | 19 |
| ENSEMBL ID | ENSG00000130164 |
| ENTREZ ID | 3949 |
| UNIPROT ACCESSION NUMBER | P01130 |
| GO MOLECULAR FUNCTION | low-density lipoprotein particle receptor activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04925; hsa05145; hsa04976; R-HSA-6806667; R-HSA-162582; R-HSA-372790; hsa04934; R-HSA-174824; hsa04927; hsa05160; hsa04144; hsa04913; R-HSA-418594; R-HSA-975634; R-HSA-199991; R-HSA-8964026; hsa04979; hsa04144; hsa04913; hsa04979; R-HSA-388396; hsa04934; R-HSA-8964043; R-HSA-8856825; R-HSA-8964038; hsa04927; hsa05160; R-HSA-2187338; hsa04976; hsa05145; R-HSA-382551; R-HSA-1430728; hsa04925; R-HSA-5653656; R-HSA-8856828; R-HSA-196854 |
| 6 combinations linked to LDLR | OLI500; OLI819; OLI818; OLI817; OLI821; OLI820 |
| 5 variants linked to LDLR | LDLR:c.131G>A, p.Trp44Ter; LDLR:c.2431A>T, p.Lys811Ter; LDLR:c.905G>A, p.Cys302Tyr; LDLR:c.939C>A, p.Cys313Ter; LDLR:c.611G>C, p.Cys204Ser |
| 1 disease linked to LDLR | NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |