|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:NARC-1
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
|
|
gptkbp:discoveredBy
|
gptkb:Nabil_Seidah
|
|
gptkbp:discoveredIn
|
2003
|
|
gptkbp:encodedBy
|
gptkb:PCSK9_gene
|
|
gptkbp:expressedIn
|
gptkb:kidney
liver
intestine
|
|
gptkbp:fullName
|
gptkb:Proprotein_convertase_subtilisin/kexin_type_9
|
|
gptkbp:function
|
degradation of LDL receptor
regulation of cholesterol homeostasis
|
|
gptkbp:gene
|
gptkb:PCSK9
|
|
gptkbp:HGNC_ID
|
20001
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PCSK9
|
|
gptkbp:inhibitedBy
|
gptkb:alirocumab
gptkb:evolocumab
inclisiran
|
|
gptkbp:interactsWith
|
gptkb:LDL_receptor
|
|
gptkbp:locatedOnChromosome
|
1p32.3
|
|
gptkbp:location
|
extracellular space
secreted
|
|
gptkbp:molecularWeight
|
74 kDa
|
|
gptkbp:mutationAssociatedWith
|
gain-of-function mutations cause hypercholesterolemia
loss-of-function mutations lower LDL cholesterol
|
|
gptkbp:OMIM
|
607786
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:pathway
|
cholesterol metabolism
lipid homeostasis
|
|
gptkbp:PDB
|
gptkb:2P4E
|
|
gptkbp:regulates
|
plasma LDL cholesterol levels
|
|
gptkbp:structure
|
692 amino acids
|
|
gptkbp:target
|
gptkb:PCSK9_inhibitors
|
|
gptkbp:targetOfDrug
|
gptkb:cardiovascular_disease
yes
|
|
gptkbp:UniProtID
|
Q8NBP7
|
|
gptkbp:bfsParent
|
gptkb:HGNC:8816
gptkb:alirocumab
gptkb:PCSK9_gene
gptkb:Praluent_(alirocumab)
gptkb:Repatha
|
|
gptkbp:bfsLayer
|
7
|