PCSK9 wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - FH3 - HCHOLA3 - Hypercholesterolemia, Autosomal Dominant 3 Gene - LDLCQ1 - NARC-1 - NARC1 - PC9 - PSEC0052 - Proprotein Convertase Subtilisin/Kexin Type 9 wt Allele - Proprotein Convertase, Subtilisin/Kexin-Type, 9 Gene