PCSK9 proprotein convertase subtilisin/kexin type 9
Gene ID: 255738, updated on 21-Mar-2023Gene type: protein coding
Also known as: FH3; PC9; FHCL3; NARC1; LDLCQ1; NARC-1; HCHOLA3
- See all available tests in GTR for this gene
- Go to complete Gene record for PCSK9
- Go to Variation Viewer for PCSK9 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies susceptibility loci for Wilms tumor. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Familial hypercholesterolemia MedGen: C0020445GeneReviews: Familial Hypercholesterolemia | See labs |
| Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. GeneReviews: Not available | |
| Hypercholesterolemia, autosomal dominant, 3 | See labs |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available | |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2015-12-17) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 1p32.3
- Sequence:
- Chromosome: 1; NC_000001.11 (55039548..55064852)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for PCSK9 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PCSK9 @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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