C1QB wt Allele

Preferred Label : C1QB wt Allele;

NCIt synonyms : Complement C1q B Chain wt Allele; Complement Component C1q, B Chain Gene; C1QD2; Complement Component 1, Q Subcomponent, Beta Polypeptide Gene; Complement Component 1, Q Subcomponent, B Chain Gene;

NCIt definition : Human C1QB wild-type allele is located in the vicinity of 1p36.12 and is approximately 9 kb in length. This allele, which encodes complement C1q subcomponent subunit B protein, is involved in the initiation of the serum complement system. Mutation of the gene is associated with C1q deficiency.;

NCI Metathesaurus CUI : CL1915421;

GenBank Accession Number : X03084;

Details

Origin ID

C200755;

UMLS CUI

C5849111;

OMIM relation
- Complement component 1, q subcomponent, b chain [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.12 [NCIt concept]
gene_is_element_in_pathway
- Chagas Disease Pathway [NCIt concept]
- Classical Complement 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
- Complement Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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