|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
myocardial infarction
atherosclerosis
coronary artery disease
xanthomas
premature cardiovascular disease
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for familial hypercholesterolemia
|
|
gptkbp:discoveredBy
|
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
|
|
gptkbp:encodes
|
gptkb:LDL_receptor
|
|
gptkbp:Entrez_Gene_ID
|
3949
|
|
gptkbp:expressedIn
|
gptkb:adrenal_gland
liver
peripheral tissues
|
|
gptkbp:fullName
|
gptkb:low_density_lipoprotein_receptor_gene
|
|
gptkbp:function
|
mediates endocytosis of cholesterol-rich LDL
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
6547
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LDLR gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
860 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.2
gptkb:chromosome_19
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_hypercholesterolemia
nonsense
missense
frameshift
splice site
large rearrangement
|
|
gptkbp:OMIM
|
606945
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Ldlr
|
|
gptkbp:pathway
|
cholesterol metabolism
lipoprotein metabolism
|
|
gptkbp:product
|
gptkb:LDL_receptor
|
|
gptkbp:proteinFamily
|
gptkb:EGF_precursor_homology_domain
transmembrane domain
O-linked sugar domain
cytoplasmic domain
ligand-binding domain
|
|
gptkbp:recipient
|
cell surface receptor
|
|
gptkbp:regulates
|
gptkb:insulin
gptkb:PCSK9_protein
gptkb:SREBP_pathway
hormone
dietary cholesterol
|
|
gptkbp:target
|
gptkb:PCSK9_inhibitors
statins
|
|
gptkbp:UniProtID
|
gptkb:P01130
|
|
gptkbp:bfsParent
|
gptkb:LDL_receptor
gptkb:familial_hypercholesterolemia
|
|
gptkbp:bfsLayer
|
6
|