SERPINC1 wt Allele

Preferred Label : SERPINC1 wt Allele;

NCIt synonyms : THPH7; PRO0309; ATIII; MGC22579; AT3; AT3D; Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member 1 wt Allele;

NCIt definition : Human SERPINC1 wild-type allele is located in the vicinity of 1q25.1 and is approximately 14 kb in length. This allele, which encodes antithrombin-III protein, plays a role in both protease inhibition and blood coagulation. Mutation of the gene is associated with antithrombin III deficiency.;

GenBank Accession Number : X68793;

Details

Origin ID

C104682;

UMLS CUI

C3538795;

OMIM relation
- Serpin peptidase inhibitor, clade C (antithrombin), 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_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Glypican 1 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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