MBL2 wt Allele

Preferred Label : MBL2 wt Allele;

NCIt synonyms : MGC116832; Mannose-Binding Lectin (Protein C) 2, Soluble (Opsonic Defect) wt Allele; MBL; MBP; COLEC1; HSMBPC; MGC116833; MBP1;

NCIt definition : Human MBL2 wild-type allele is located within 10q11.2-q21 and is approximately 6 kb in length. This allele, which encodes mannose-binding protein C, is involved in pathogen immune response initiation through activation of the complement pathway. Polymorphisms in the allele may increase the risk for colon cancer.;

NCIt note : The MBL2 gene product can be produced recombinantly and is used therapeutically to treat patients that are deficient for this gene.;

GenBank Accession Number : NM_000242;

Details

Origin ID

C68579;

UMLS CUI

C2346907;

False automatic mappings
- (18F)MBP [MeSH concept]
OMIM relation
- Mannose-binding lectin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q11.2-q21 [NCIt concept]
gene_is_element_in_pathway
- Lectin Induced Complement Pathway [NCIt concept]
gene_plays_role_in_process
- Immune System Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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