C8A wt Allele - CISMeF

Preferred Label : C8A wt Allele;

NCIt synonyms : Complement C8 Alpha Chain wt Allele; Complement Component 8, Alpha Polypeptide Gene; Complement Component 8, Alpha Subunit Gene;

NCIt definition : Human C8A wild-type allele is located in the vicinity of 1p32.2 and is approximately 63 kb in length. This allele, which encodes complement component C8 alpha chain protein, plays a role in complement-mediated cell lysis. Mutation of the gene is associated with type 1 C8 deficiency.;

NCI Metathesaurus CUI : CL1648064;

GenBank Accession Number : M16974;

Details

Origin ID

C178606;

UMLS CUI

C5550985;

OMIM relation
- Complement component 8, alpha subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Amoebiasis Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Prion Disease Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Activation of Membrane Attack Complex [NCIt concept]
- Complement Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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