SERPINE1 wt Allele

Preferred Label : SERPINE1 wt Allele;

NCIt synonyms : Serpin Family E Member 1 wt Allele; PLANH1; PAI; PAI-1; PAI1; Serine (or Cysteine) Proteinase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 1 Gene;

NCIt definition : Human SERPINE1 wild-type allele is located within 7q21.3-q22 and is approximately 12 kb in length. This allele, which encodes plasminogen activator inhibitor 1 protein, plays a role in preventing the generation of plasmin. Defects in the SERPINE1 gene cause PAI-1 deficiency. Overexpression of this gene is associated with thrombophilia.;

GenBank Accession Number : NM_000602;

Details

Origin ID

C51407;

UMLS CUI

C1705527;

OMIM relation
- Serpin peptidase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 1 [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
- 7q21.3-q22 [NCIt concept]
gene_plays_role_in_process
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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