SERPING1 wt Allele

Preferred Label : SERPING1 wt Allele;

NCIt synonyms : C1IN; C1INH; Serpin Family G Member 1 wt Allele; Serpin Peptidase Inhibitor, Clade G (C1 Inhibitor), Member 1 Gene; Angioedema, Hereditary Gene; Serine/Cysteine Proteinase Inhibitor Clade G Member 1 Gene; Serine (or Cysteine) Proteinase Inhibitor, Clade G (C1 Inhibitor), Member 1, (Angioedema, Hereditary) Gene; HAE1; HAE2; Serpin Peptidase Inhibitor, Clade G, Member 1 Gene; C1NH;

NCIt definition : Human SERPING1 wild-type allele is located in the vicinity of 11q12.1 and is approximately 22 kb in length. This allele, which encodes plasma protease C1 inhibitor protein, plays a role in serine proteinase inhibition. Mutation of the gene is associated with hereditary angioedema types 1 and 2 and partial deficiency of complement component 4.;

NCI Metathesaurus CUI : CL1664800;

GenBank Accession Number : X54486;

Details

Origin ID

C181691;

UMLS CUI

C5551194;

Automatic exact mappings (from CISMeF team)
- Angioedema, hereditary, 1 [OMIM Phenotype]
- Complement component 1 inhibitor [OMIM gene]
- serpin family G member 1 [ORDO Gene]
OMIM relation
- Complement component 1 inhibitor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q12.1 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Negative Regulation of Complement Activation [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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