APOA5 wt Allele

Preferred Label : APOA5 wt Allele;

NCIt synonyms : Apolipoprotein A5 wt Allele; RAP3; APOAV; UNQ411/PRO773; APOA-V;

NCIt definition : Human APOA5 wild-type allele is located in the vicinity of 11q23.3 and is approximately 3 kb in length. This allele, which encodes apolipoprotein A-V protein, plays a role in the regulation of plasma triglyceride concentration. Mutation of the gene is associated with hyperlipoproteinemia 5 (late-onset hyperchylomicronemia) and increased susceptibility to hypertriglyceridemia.;

NCI Metathesaurus CUI : CL1798806;

GenBank Accession Number : AF202889;

Details

Origin ID

C190088;

UMLS CUI

C5780757;

OMIM relation
- Apolipoprotein a-V [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Apolipoprotein a-V [OMIM gene]
- apolipoprotein A5 [ORDO Gene]
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]
- 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