CFI wt Allele - CISMeF

Preferred Label : CFI wt Allele;

NCIt synonyms : AHUS3; Konglutinogen-Activating Factor Gene; KAF; Complement Factor I wt Allele; Complement Factor I Heavy Chain Gene; Light Chain of Factor I Gene; IF; C3b-Inactivator Gene; I Factor (Complement) Gene; C3b-INA; Complement Control Protein Factor I Gene; FI; Complement Component I Gene; C3BINA; ARMD13;

NCIt definition : Human CFI wild-type allele is located in the vicinity of 4q25 and is approximately 71 kb in length. This allele, which encodes complement factor I protein, plays a role in the downregulation of complement pathway activity. Mutations in the gene are associated with complement factor I deficiency (C3 glomerulopathy 2), atypical hemolytic uremic syndrome 3 and age-related macular degeneration 13.;

NCI Metathesaurus CUI : CL1905783;

GenBank Accession Number : J02770;

Détails

Origin ID

C198613;

UMLS CUI

C5849023;

OMIM relation
- Complement factor I [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q25 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Hydrolysis [NCIt concept]
- Negative Regulation of Complement Activation [NCIt concept]
- Protein Cleavage [NCIt concept]
- Proteolysis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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