Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PCSK9

contributors: mct - updated : 19-04-2017

HGNC name	proprotein convertase subtilisin/kexin type 9
HGNC id	20001

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HCHOLA3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function nonsense mutations associated with low plasma levels of low-density lipoprotein cholesterol (LDL-C) constitutional       gain of function associated with hypercholesterolemia

Susceptibility

to hypercholesterolemia to low plasma levels of low-density lipoprotein cholesterol (LDL-C)

Variant & Polymorphism SNP , other	variants influencing the secretion of apoB-containing lipoproteins, and increasing in circulating LDL in heterozygous carriers
	3 SNPs associated with modest differences in plasma LDL-C levels
	E670G variation associated with an increased incidence of coronary artery disease in men versus women

Candidate gene
Marker	plasma PCSK9 levels may serve as a surrogate marker of hepatic SREBF2 activity in humans
	PCSK9 could serve as a novel molecular biomarker for the non-invasive prenatal screening of neural tube defects (NTDs) and may be involved in the pathogenesis of NTDs at critical periods of fetal development
Therapy target
	System Type Disorder Pubmed miscelleaneous urinary   PCSK9 inhibitors may be beneficial in patients with nephrotic syndrome-associated hypercholesterolemia cardiovascular atheroma   attractive therapeutic target for LDL-C lowering, and for the treatment of cardiovascular disease cardiovascular atheroma   therapeutic target for the prevention of premature atherosclerosis and coronary heart disease cardiovascular atheroma   reducing PCSK9 expression or specific antibodies targeting and inhibiting PCSK9 interaction with the LDL receptor constitute very promising approaches to reducing cholesterol levels and coronary heart disease metabolism lipid cholesterol therapeutic PCSK9 inhibition may have vascular benefits secondary to LDL reduction cancer brain glioma/neuroblstoma promising therapeutic strategy for the malignant glioma cardiovascular atheroma   silencing the expression/activity of PCSK9 is a new modality in the treatment of hypercholesterolemia and associated pathologies

ANIMAL & CELL MODELS