PCSK9 Chromosome 1
Proprotein convertase subtilisin/kexin type 9
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What This Gene Does
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]
Gene Info
Gene Group
Proprotein convertase subtilisin/kexin family
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000169174
Associated Conditions (16)
Familial hypercholesterolemia
Hypercholesterolemia
autosomal dominant
3
Hypobetalipoproteinemia
familial
1
Cardiovascular phenotype
PCSK9-related disorder
Short fetal femur length
Low density lipoprotein cholesterol level quantitative trait locus 1
Hypocholesterolemia
See cases
Lung cancer
Cervical cancer
Homozygous familial hypercholesterolemia
Key Variants
RS11206510
association
Familial hypercholesterolemia, Familial hypercholesterolemia
Health Risk
RS1021280547
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, 3
Health Risk
RS1042826452
Conflicting classifications of pathogenicity
Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant
Health Risk
RS1057516136
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS111400659
Conflicting classifications of pathogenicity
Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant
Health Risk
RS11800243
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1205972630
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, 3
Health Risk
RS1208879197
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, 3
Health Risk
RS1254535640
Conflicting classifications of pathogenicity
Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant
Health Risk
RS1278078294
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, 3
Health Risk
RS1305635836
Conflicting classifications of pathogenicity
Hypercholesterolemia, autosomal dominant, 3
Health Risk
RS1317742736
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1644722615 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS1644729088 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Cardiovascular phenotype, Familial hypercholesterolemia |
| RS1644743243 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS185392267 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS186669805 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS200091654 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS200146448 | Health Risk | Conflicting classifications of pathogenicity | Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant |
| RS200856421 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS201280059 | Health Risk | Conflicting classifications of pathogenicity | Hypobetalipoproteinemia, Familial hypercholesterolemia, Cardiovascular phenotype |
| RS201395805 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS201789841 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS2100267180 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS2479409 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS2523228508 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant |
| RS28362201 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS28362270 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS28362286 | Health Risk | Conflicting classifications of pathogenicity | Low density lipoprotein cholesterol level quantitative trait locus 1, Hypocholesterolemia, Familial hypercholesterolemia |
| RS28362287 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS28385701 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS28385710 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS35574083 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS367606156 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS369067856 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Cardiovascular phenotype, Hypercholesterolemia |
| RS371744393 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS373018373 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS373664939 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS374603772 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS375582388 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS376653409 | Health Risk | Conflicting classifications of pathogenicity | Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant |
| RS376945520 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS41297883 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS509504 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS529912877 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS533273863 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS533555352 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS533612423 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS542863545 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS555751342 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS557622245 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS568853401 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS569379713 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS574653669 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS67608943 | Health Risk | Conflicting classifications of pathogenicity | Low density lipoprotein cholesterol level quantitative trait locus 1, Familial hypercholesterolemia, Hypercholesterolemia |
| RS72646509 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS72646510 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS72646513 | Health Risk | Conflicting classifications of pathogenicity | Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant |
| RS72646515 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS72646516 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS745578045 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, autosomal dominant, 3 |
| RS746115963 | Health Risk | Conflicting classifications of pathogenicity | Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant |