C6 wt Allele - CISMeF

Preferred Label : C6 wt Allele;

NCIt synonyms : Complement C6 wt Allele;

NCIt definition : Human C6 wild-type allele is located in the vicinity of 5p13.1 and is approximately 119 kb in length. This allele, which encodes complement component C6 protein, plays a role in complement-mediated responses. Mutation of the gene is associated with a range of deficiencies in complement responses ranging from partial to absent.;

NCI Metathesaurus CUI : CL1648287;

GenBank Accession Number : J05024;

Details

Origin ID

C178645;

UMLS CUI

C5551078;

OMIM relation
- Complement component 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p13.1 [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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