|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:NARC-1
gptkb:neural_apoptosis-regulated_convertase_1
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
atherosclerosis
coronary artery disease
hyperlipidemia
|
|
gptkbp:discoveredBy
|
gptkb:Nabil_Seidah
|
|
gptkbp:discoveredIn
|
2003
|
|
gptkbp:encodes
|
gptkb:PCSK9_protein
|
|
gptkbp:Entrez_Gene_ID
|
255738
|
|
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:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
20001
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PCSK9 gene
|
|
gptkbp:inhibitedBy
|
gptkb:siRNA
monoclonal antibodies
|
|
gptkbp:length
|
692 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p32.3
|
|
gptkbp:mutationAssociatedWith
|
decreased LDL cholesterol
increased LDL cholesterol
|
|
gptkbp:OMIM
|
607786
|
|
gptkbp:orthologInMouse
|
Pcsk9
|
|
gptkbp:pathway
|
lipid metabolism
cholesterol metabolism
|
|
gptkbp:proteinFamily
|
proprotein convertase family
|
|
gptkbp:regulates
|
gptkb:LDL_receptor
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:target
|
gptkb:alirocumab
gptkb:evolocumab
inclisiran
|
|
gptkbp:UniProtID
|
Q8NBP7
|
|
gptkbp:bfsParent
|
gptkb:familial_hypercholesterolemia
|
|
gptkbp:bfsLayer
|
6
|