APOA2 wt Allele

Preferred Label : APOA2 wt Allele;

NCIt synonyms : ApoA-II; Apo-AII; ApoAII; Apolipoprotein A2 wt Allele;

NCIt definition : Human APOA2 wild-type allele is located in the vicinity of 1q23.3 and is approximately 1 kb in length. This allele, which encodes apolipoprotein A-II protein, plays a role in high density lipoprotein-dependent cholesterol transport and metabolism. Mutation of the gene is associated with apolipoprotein A-II deficiency or hypercholesterolemia.;

NCI Metathesaurus CUI : CL1794166;

GenBank Accession Number : NM_001643;

Details

Origin ID

C189198;

UMLS CUI

C5702832;

OMIM relation
- Apolipoprotein a-II [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q23.3 [NCIt concept]
gene_is_element_in_pathway
- PPAR Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients