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Human PCSK9 wild-type allele is located in the vicinity of 1p32.3 and is approximately 25 kb in length. This allele, which encodes proprotein convertase subtilisin/kexin type 9 protein, plays a role in both receptor protein degradation and lipid metabolism. Mutation of the gene is associated with autosomal dominant familial hypercholesterolemia type 3.
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