low density lipoprotein receptor gene
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:familial_hypercholesterolemia
|
| gptkbp:discoveredBy |
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein |
| gptkbp:encodes |
gptkb:low_density_lipoprotein_receptor
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000130164
3949 |
| gptkbp:function |
cholesterol homeostasis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
6547
|
| https://www.w3.org/2000/01/rdf-schema#label |
low density lipoprotein receptor gene
|
| gptkbp:locatedOnChromosome |
gptkb:19p13.2
gptkb:chromosome_19 |
| gptkbp:mutationAssociatedWith |
elevated LDL cholesterol
|
| gptkbp:OMIM |
606945
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Ldlr
|
| gptkbp:symbol |
gptkb:LDLR
|
| gptkbp:UniProtID |
gptkb:P01130
|
| gptkbp:bfsParent |
gptkb:LDLR_gene
|
| gptkbp:bfsLayer |
7
|