Low-density lipoprotein receptor

URI: https://gptkb.org/entity/Low-density_lipoprotein_receptor
GPTKB entity
Statements (50)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alternativeName gptkb:LDL_receptor
gptkb:LDLR
gptkbp:associatedWith gptkb:familial_hypercholesterolemia
gptkbp:binds gptkb:apolipoprotein_B-100
gptkb:apolipoprotein_E
gptkbp:degradedBy gptkb:lysosome
gptkbp:discoveredBy gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
gptkbp:domain transmembrane domain
EGF-precursor homology domain
O-linked sugar domain
cytoplasmic domain
ligand-binding domain
gptkbp:encodedBy gptkb:LDLR_gene
gptkbp:expressedIn gptkb:adrenal_gland
liver
peripheral tissues
gptkbp:foundIn gptkb:cell_membrane
gptkbp:function mediates endocytosis of cholesterol-rich LDL
gptkbp:hasPolymorphism rs688
gptkbp:HGNC_ID 6547
https://www.w3.org/2000/01/rdf-schema#label Low-density lipoprotein receptor
gptkbp:involvedIn receptor-mediated endocytosis
gptkbp:locatedOnChromosome gptkb:19p13.2
gptkb:chromosome_19
gptkbp:molecularWeight ~120 kDa
gptkbp:mutationAssociatedWith gptkb:familial_hypercholesterolemia
gptkbp:NobelPrizeYear 1985 Nobel Prize in Physiology or Medicine
gptkbp:OMIM 606945
gptkbp:orthologIn gptkb:meat
gptkb:mouse
gptkb:zebrafish
right
gptkbp:PDB gptkb:1N7D
gptkbp:regulates cholesterol homeostasis
gptkbp:reviewedBy gptkb:GeneReviews
gptkb:NCBI_Gene
gptkb:OMIM
gptkb:UniProt
gptkb:Ensembl
gptkbp:significance gptkb:familial_hypercholesterolemia
atherosclerosis
coronary artery disease
gptkbp:target gptkb:PCSK9_inhibitors
statins
gptkbp:UniProtID gptkb:P01130
gptkbp:bfsParent gptkb:3LDL
gptkbp:bfsLayer 7