|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:LDL_receptor
gptkb:LDLR
|
|
gptkbp:associatedWith
|
gptkb:PCSK9_inhibitors
gptkb:familial_hypercholesterolemia
statins
|
|
gptkbp:clinical_test
|
genetic testing for familial hypercholesterolemia
|
|
gptkbp:discoveredBy
|
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000130164
3949
|
|
gptkbp:expressedIn
|
gptkb:adrenal_gland
brain
liver
|
|
gptkbp:fullName
|
gptkb:low_density_lipoprotein_receptor
|
|
gptkbp:function
|
mediates endocytosis of cholesterol-rich LDL
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
GO:0006886 (intracellular protein transport)
GO:0005041 (low-density lipoprotein receptor activity)
|
|
gptkbp:hasTranscriptVariant
|
NM_000527.4
|
|
gptkbp:HGNC_ID
|
6540
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Ldlr
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:PCSK9
gptkb:APOB
gptkb:LDL
|
|
gptkbp:length
|
860 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.2
19
|
|
gptkbp:location
|
gptkb:cell_membrane
|
|
gptkbp:molecularWeight
|
95 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
splice site
elevated plasma cholesterol
|
|
gptkbp:OMIM
|
606945
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Ldlr_(Mus_musculus)
|
|
gptkbp:pathway
|
cholesterol metabolism
lipoprotein metabolism
|
|
gptkbp:PDB
|
gptkb:1N7D
|
|
gptkbp:product
|
gptkb:LDL_receptor
|
|
gptkbp:regulates
|
downregulated by cholesterol
upregulated by SREBP
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:OMIM
|
|
gptkbp:significance
|
pathogenic
|
|
gptkbp:UniProtID
|
gptkb:P01130
|
|
gptkbp:bfsParent
|
gptkb:LDLR_gene
gptkb:mouse_LDL_receptor
gptkb:LDLR
|
|
gptkbp:bfsLayer
|
7
|