PCSK9 wt Allele

Preferred Label : PCSK9 wt Allele;

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

NCIt 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.;

GenBank Accession Number : AX207686;

Details

Origin ID

C122916;

UMLS CUI

C4049729;

Automatic exact mappings (from CISMeF team)
- Familial hyperaldosteronism type III [ORDO Disease]
- Hypercholesterolemia, familial, 3 [OMIM Phenotype]
- PC9 (body structure) [SNOMED CT concept]
- Proprotein convertase subtilisin/kexin type 9 gene (substance) [SNOMED CT concept]
- Proprotein convertase, subtilisin/kexin-type, 9 [OMIM gene]
- hypercholesterolemia, autosomal dominant, 3 [MeSH Supplementary Concept]
- proprotein convertase subtilisin/kexin type 9 [ORDO Gene]
OMIM relation
- Proprotein convertase, subtilisin/kexin-type, 9 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p32.3 [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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