APOC3 wt Allele

Preferred Label : APOC3 wt Allele;

NCIt synonyms : HALP2; Apolipoprotein C-III Genes; APOCIII; Apolipoprotein C3 wt Allele;

NCIt definition : Human APOC3 wild-type allele is located in the vicinity of 11q23.3 and is approximately 3 kb in length. This allele, which encodes apolipoprotein C-III protein, plays a role in the transport and half-life of very low density lipoproteins and chylomicrons. Mutation of the gene is associated with hyperalphalipoproteinemia 2. Fusion of this gene with the 3' end of the neighboring APOA1 gene is associated with combined apoA-I and apoC-III deficiency.;

GenBank Accession Number : X01388;

Détails

Origin ID

C117098;

UMLS CUI

C3890739;

Automatic exact mappings (from CISMeF team)
- ApoC-III [MeSH concept]
- Apolipoprotein C-I [LOINC component]
- Apolipoprotein C-II [LOINC component]
- Apolipoprotein C-III [LOINC component]
- Apolipoprotein C-iii deficiency [OMIM Phenotype]
- apolipoprotein C-III deficiency [DO Concept]
- apolipoprotein c-i [MeSH Descriptor]
- apolipoprotein c-ii [MeSH Descriptor]
- apolipoprotein c-iii [MeSH Descriptor]
OMIM relation
- Apolipoprotein C-iii [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23.3 [NCIt concept]
gene_is_element_in_pathway
- PPAR Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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