rs11583680
This is a variant in the PCSK9 gene that changes a alanine to an valine.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
PCSK9 protein measurement
proprotein convertase subtilisin/kexin type 9 measurement
low density lipoprotein cholesterol measurement
total cholesterol measurement
apolipoprotein B measurement
▶ClinVar annotation
Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3 (FHCL3); Hypercholesterolemia, familial, 1; Hypobetalipoproteinemia; not specified
View on ClinVar →About PCSK9
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]
View all PCSK9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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