APOB wt Allele

Preferred Label : APOB wt Allele;

NCIt synonyms : LDLCQ4; Apolipoprotein B (Including Ag(x) Antigen) Gene; FLDB; Apolipoprotein B wt Allele;

NCIt definition : Human APOB wild-type allele is located within 2p24-p23 and is approximately 43 kb in length. This allele, which encodes apolipoprotein B-100 protein, is involved in both transport and cellular binding of lipoprotein particles. Mutation of the gene is associated with both familial ligand-defective apolipoprotein B-100 and familial hypobetalipoproteinemia type 1.;

GenBank Accession Number : M14162;

Details

Origin ID

C106031;

UMLS CUI

C3814817;

Automatic exact mappings (from CISMeF team)
- Apolipoprotein B (including Ag(x) antigen) gene (substance) [SNOMED CT concept]
- Hypobetalipoproteinemia, familial, 1 [OMIM Phenotype]
OMIM relation
- Apolipoprotein b [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_is_element_in_pathway
- AlphaM/Beta2 Integrin Signaling Pathway [NCIt concept]
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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