SERPINA1 wt Allele

Preferred Label : SERPINA1 wt Allele;

NCIt synonyms : nNIF; AAT; A1A; A1AT; PI1; PI; PRO2275; Protease Inhibitor 1 (Anti-Elastase), Alpha-1-Antitrypsin Gene; Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 Gene; Serpin Peptidase Inhibitor Clade A Member 1 Gene; Alpha1AT; Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 Gene; Serpin Peptidase Inhibitor Clade A (Alpha-1antiproteinase, Antitrypsin) Member 1 Gene; Serpin Family A Member 1 wt Allele; Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 1 Gene;

NCIt definition : Human SERPINA1 wild-type allele is located in the vicinity of 14q32.1 and is approximately 14 kb in length. This allele, which encodes alpha-1-antitrypsin protein, is involved in both the regulation of proteolysis and coagulation. Mutations in this gene are associated with pulmonary disease, emphysema, and bleeding disorders.;

GenBank Accession Number : NM_001002235;

Details

Origin ID

C105011;

UMLS CUI

C3537219;

OMIM relation
- Serpin peptidase inhibitor, clade a, 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_plays_role_in_process
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients