KLKB1 wt Allele

Preferred Label : KLKB1 wt Allele;

NCIt synonyms : PPK; KLK3; Kallikrein B, Plasma (Fletcher Factor) 1 wt Allele;

NCIt definition : Human KLKB1 wild-type allele is located in the vicinity of 4q35 and is approximately 49 kb in length. This allele, which encodes plasma kallikrein protein, is involved in the regulation of proteolysis, blood coagulation, fibrinolysis and inflammation. Mutation of the gene is associated with a blood coagulation disorder arising from prekallikrein deficiency.;

NCIt note : Plasma kallikrein may be involved in Diabetes-related stroke risk. (Nature Medicine, 2011; 17: 206-210.);

GenBank Accession Number : M13143;

Details

Origin ID

C95566;

UMLS CUI

C2987230;

OMIM relation
- Kallikrein b, plasma, 1 [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
- 4q35 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients