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Aliases for PCSK9 Gene

Aliases for PCSK9 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 9 2 3 5
  • Subtilisin/Kexin-Like Protease PC9 3 4
  • NARC-1 3 4
  • NARC1 3 4
  • PC9 3 4
  • Convertase Subtilisin/Kexin Type 9 Preproprotein 3
  • Hypercholesterolemia, Autosomal Dominant 3 2
  • Neural Apoptosis Regulated Convertase 1 3
  • Neural Apoptosis-Regulated Convertase 1 4
  • Proprotein Convertase 9 4
  • EC 3.4.21.111 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • HCHOLA3 3
  • LDLCQ1 3
  • FH3 3

External Ids for PCSK9 Gene

Previous HGNC Symbols for PCSK9 Gene

  • HCHOLA3

Previous GeneCards Identifiers for PCSK9 Gene

  • GC01P054862
  • GC01P054875
  • GC01P055217
  • GC01P055277
  • GC01P055505
  • GC01P053618

Summaries for PCSK9 Gene

Entrez Gene Summary for PCSK9 Gene

  • This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for PCSK9 Gene

PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) is a Protein Coding gene. Diseases associated with PCSK9 include Hypercholesterolemia, Familial, 3 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Glucose / Energy Metabolism and Neuroscience. GO annotations related to this gene include poly(A) RNA binding and protein self-association.

UniProtKB/Swiss-Prot for PCSK9 Gene

  • Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.

Gene Wiki entry for PCSK9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK9 Gene

Genomics for PCSK9 Gene

Regulatory Elements for PCSK9 Gene

Enhancers for PCSK9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCSK9 on UCSC Golden Path with GeneCards custom track

Promoters for PCSK9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCSK9 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCSK9 Gene

Chromosome:
1
Start:
55,039,476 bp from pter
End:
55,064,853 bp from pter
Size:
25,378 bases
Orientation:
Plus strand

Genomic View for PCSK9 Gene

Genes around PCSK9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK9 Gene

Proteins for PCSK9 Gene

  • Protein details for PCSK9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBP7-PCSK9_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 9
    Protein Accession:
    Q8NBP7
    Secondary Accessions:
    • A8T640
    • C0JYY9
    • Q5PSM5
    • Q5SZQ2

    Protein attributes for PCSK9 Gene

    Size:
    692 amino acids
    Molecular mass:
    74286 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer. Can self-associate to form dimers and higher multimers which may have increased LDLR degrading activity. The precursor protein but not the mature protein may form multimers. Interacts with APOB, VLDLR, LRP8/APOER2 and BACE1. The full length immature form (pro-PCSK9) interacts with SCNN1A, SCNN1B and SCNN1G. The pro-PCSK9 form (via C-terminal domain) interacts with LDLR. Interacts (via the C-terminal domain) with ANXA2 (via repeat Annexin 1); the interaction inhibits the degradation of LDLR (PubMed:18799458).
    SequenceCaution:
    • Sequence=BAC11572.1; Type=Frameshift; Positions=494; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCSK9 Gene

    Alternative splice isoforms for PCSK9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCSK9 Gene

Proteomics data for PCSK9 Gene at MOPED

Post-translational modifications for PCSK9 Gene

  • Cleavage by furin and PCSK5 generates a truncated inactive protein that is unable to induce LDLR degradation.
  • Phosphorylation protects the propeptide against proteolysis.
  • Undergoes autocatalytic cleavage in the endoplasmic reticulum to release the propeptide from the N-terminus and the cleavage of the propeptide is strictly required for its maturation and activation. The cleaved propeptide however remains associated with the catalytic domain through non-covalent interactions, preventing potential substrates from accessing its active site. As a result, it is secreted from cells as a propeptide-containing, enzymatically inactive protein.
  • Glycosylation at Asn 533
  • Modification sites at PhosphoSitePlus

Other Protein References for PCSK9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PCSK9 (Proprotein Convertase 9/PCSK9)
  • Cell Signaling Technology (CST) Antibodies for PCSK9 (PCSK9)

Domains & Families for PCSK9 Gene

Gene Families for PCSK9 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBP7

UniProtKB/Swiss-Prot:

PCSK9_HUMAN :
  • The C-terminal domain (CRD) is essential for the LDLR-binding and degrading activities.
  • Belongs to the peptidase S8 family.
Domain:
  • The C-terminal domain (CRD) is essential for the LDLR-binding and degrading activities.
  • The catalytic domain is responsible for mediating its self-association.
  • Contains 1 peptidase S8 domain.
Family:
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with PCSK9: view

Function for PCSK9 Gene

Molecular function for PCSK9 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Its proteolytic activity is autoinhibited by the non-covalent binding of the propeptide to the catalytic domain. Inhibited by EGTA.
UniProtKB/Swiss-Prot Function:
Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.

Enzyme Numbers (IUBMB) for PCSK9 Gene

Gene Ontology (GO) - Molecular Function for PCSK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,IDA 12552133
GO:0030547 receptor inhibitor activity IDA 22848640
GO:0034185 apolipoprotein binding IEA,ISS --
GO:0043621 protein self-association IDA 18197702
genes like me logo Genes that share ontologies with PCSK9: view
genes like me logo Genes that share phenotypes with PCSK9: view

Human Phenotype Ontology for PCSK9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCSK9 Gene

MGI Knock Outs for PCSK9:

Animal Model Products

miRNA for PCSK9 Gene

miRTarBase miRNAs that target PCSK9

No data available for Transcription Factor Targets and HOMER Transcription for PCSK9 Gene

Localization for PCSK9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK9 Gene

Cytoplasm. Secreted. Endosome. Lysosome. Cell surface. Endoplasmic reticulum. Golgi apparatus. Note=Autocatalytic cleavage is required to transport it from the endoplasmic reticulum to the Golgi apparatus and for the secretion of the mature protein. Localizes to the endoplasmic reticulum in the absence of LDLR and colocalizes to the cell surface and to the endosomes/lysosomes in the presence of LDLR. The sorting to the cell surface and endosomes is required in order to fully promote LDLR degradation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCSK9 Gene COMPARTMENTS Subcellular localization image for PCSK9 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PCSK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005770 late endosome IDA 17461796
GO:0005783 endoplasmic reticulum IEA,IDA 17461796
GO:0005791 rough endoplasmic reticulum IEA --
GO:0009986 cell surface IDA 17461796
GO:0031232 extrinsic component of external side of plasma membrane IC 17328821
genes like me logo Genes that share ontologies with PCSK9: view

Pathways & Interactions for PCSK9 Gene

genes like me logo Genes that share pathways with PCSK9: view

Pathways by source for PCSK9 Gene

2 Cell Signaling Technology pathways for PCSK9 Gene

Gene Ontology (GO) - Biological Process for PCSK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development ISS 12552133
GO:0001889 liver development IEA,ISS 12552133
GO:0002092 positive regulation of receptor internalization IDA 17328821
GO:0006508 proteolysis IEA --
GO:0006641 triglyceride metabolic process IEA --
genes like me logo Genes that share ontologies with PCSK9: view

No data available for SIGNOR curated interactions for PCSK9 Gene

Drugs & Compounds for PCSK9 Gene

(30) Drugs for PCSK9 Gene - From: PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lomitapide Approved Pharma 0
Estradiol Approved, Investigational Pharma Sex hormone 1235
Methyltestosterone Approved Pharma 519
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 499
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 519

(4) Additional Compounds for PCSK9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PCSK9: view

Transcripts for PCSK9 Gene

mRNA/cDNA for PCSK9 Gene

Unigene Clusters for PCSK9 Gene

Proprotein convertase subtilisin/kexin type 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for PCSK9 Gene

GeneLoc Exon Structure for
PCSK9
ECgene alternative splicing isoforms for
PCSK9

Expression for PCSK9 Gene

mRNA expression in normal human tissues for PCSK9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCSK9 Gene

This gene is overexpressed in Liver (x18.8), Brain - Cerebellar Hemisphere (x6.1), and Brain - Cerebellum (x5.6).

Protein differential expression in normal tissues from HIPED for PCSK9 Gene

This gene is overexpressed in Serum (61.4) and Plasma (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCSK9 Gene



SOURCE GeneReport for Unigene cluster for PCSK9 Gene Hs.18844

mRNA Expression by UniProt/SwissProt for PCSK9 Gene

Q8NBP7-PCSK9_HUMAN
Tissue specificity: Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.
genes like me logo Genes that share expression patterns with PCSK9: view

Protein tissue co-expression partners for PCSK9 Gene

Primer Products

Orthologs for PCSK9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCSK9 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Pcsk9 35
  • 80.84 (n)
  • 77.83 (a)
Pcsk9 16
Pcsk9 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCSK9 35
  • 99.13 (n)
  • 98.99 (a)
PCSK9 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcsk9 35
  • 81 (n)
  • 78.13 (a)
dog
(Canis familiaris)
Mammalia PCSK9 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCSK9 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK9 36
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK9 35
  • 68.98 (n)
  • 64.3 (a)
PCSK9 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCSK9 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk9 35
  • 62.57 (n)
  • 61.9 (a)
zebrafish
(Danio rerio)
Actinopterygii pcsk9 35
  • 59.57 (n)
  • 55.52 (a)
pcsk9 36
  • 52 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YSP3 35
  • 42.52 (n)
  • 34.6 (a)
PRB1 36
  • 20 (a)
OneToMany
RRT12 36
  • 26 (a)
OneToMany
YSP3 36
  • 24 (a)
OneToMany
YSP3 38
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psp3 35
  • 45.03 (n)
  • 34.8 (a)
Species with no ortholog for PCSK9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCSK9 Gene

ENSEMBL:
Gene Tree for PCSK9 (if available)
TreeFam:
Gene Tree for PCSK9 (if available)

Paralogs for PCSK9 Gene

No data available for Paralogs for PCSK9 Gene

Variants for PCSK9 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK9 Gene

PCSK9_HUMAN-Q8NBP7
Genetic variations in PCSK9 define the low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) [MIM:603776].
PCSK9_HUMAN-Q8NBP7
Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia.

Sequence variations from dbSNP and Humsavar for PCSK9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11591147 - 55,039,974(+) CTTGC(G/T)TTCCG upstream-variant-2KB, reference, missense
rs11583680 - 55,039,995(+) CCTGG(C/G/T)CGAAG upstream-variant-2KB, reference, missense
rs28942111 Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) 55,044,016(+) ATGAG(A/T)GGCGA intron-variant, reference, missense
rs28942112 Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) 55,052,400(+) CCCGC(C/T)TCCAC nc-transcript-variant, reference, missense
rs505151 - 55,063,514(+) CGAAG(A/G)GGCCG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PCSK9 Gene

Variant ID Type Subtype PubMed ID
nsv817614 CNV Gain 22305530
nsv527129 CNV Loss 19592680
nsv518539 CNV Loss 19592680
nsv871300 CNV Gain 21882294
nsv870795 CNV Gain 21882294
nsv870896 CNV Gain 21882294
nsv518638 CNV Loss 19592680
nsv527707 CNV Loss 19592680
dgv230n71 CNV Gain 21882294
nsv871653 CNV Loss 21882294
nsv517995 CNV Loss 19592680

Variation tolerance for PCSK9 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCSK9 Gene

Human Gene Mutation Database (HGMD)
PCSK9

Disorders for PCSK9 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PCSK9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial, 3
  • low density lipoprotein cholesterol level qtl 1
homozygous familial hypercholesterolemia
  • hofh
pcsk9-related familial hypercholesterolemia, autosomal dominant
  • familial hypercholesterolemia, autosomal dominant, 3
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
gastric papillary adenocarcinoma
  • papillary adenocarcinoma of stomach
- elite association - COSMIC cancer census association via MalaCards
Search PCSK9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCSK9_HUMAN
  • Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins. {ECO:0000269 PubMed:12730697, ECO:0000269 PubMed:18799458, ECO:0000269 PubMed:24808179}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCSK9

Genetic Association Database (GAD)
PCSK9
Human Genome Epidemiology (HuGE) Navigator
PCSK9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCSK9
genes like me logo Genes that share disorders with PCSK9: view

No data available for Genatlas for PCSK9 Gene

Publications for PCSK9 Gene

  1. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. (PMID: 12552133) Seidah N.G. … Chretien M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 23 67
  2. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. (PMID: 12730697) Abifadel M. … Boileau C. (Nat. Genet. 2003) 2 3 23
  3. A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9. (PMID: 19828345) Holla A.9.L. … Leren T.P. (Mol. Genet. Metab. 2010) 3 23
  4. Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes. (PMID: 19917273) StrA … Leren T.P. (Clin. Chim. Acta 2010) 3 23
  5. The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. (PMID: 20006333) Noguchi T. … Mabuchi H. (Atherosclerosis 2010) 3 23

Products for PCSK9 Gene

Sources for PCSK9 Gene

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