PON1 wt Allele

Preferred Label : PON1 wt Allele;

NCIt synonyms : PON; ESA; Paraoxonase, Plasma Gene; Paraoxonase 1 wt Allele; MVCD5;

NCIt definition : Human PON1 wild-type allele is located in the vicinity of 7q21.3 and is approximately 99 kb in length. This allele, which encodes serum paraoxonase/arylesterase 1 protein, is involved in detoxification of lactones, aromatic carboxylic acid esters and organophosphates. Genetic variation is associated with microvascular complications of diabetes 5, and increased susceptibility to coronary artery disease, coronary artery spasm 2, and organophosphate poisoning.;

GenBank Accession Number : AF539592;

Details

Origin ID

C116048;

UMLS CUI

C3890206;

Automatic exact mappings (from CISMeF team)
- Microvascular complications of diabetes, susceptibility to, 5 [OMIM Phenotype]
- Paraoxonase 1 [OMIM Phenotype]
- atrial premature complexes [MeSH Descriptor]
- epithelial cell adhesion molecule [ORDO Gene]
- paraoxonase 1 [ORDO Gene]
- preoccipital notch [UBERON concept]
OMIM relation
- Paraoxonase 1 [OMIM Phenotype]
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
- 7q21.3 [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Detoxification [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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