Aliases for KLKB1 Gene
External Ids for KLKB1 Gene
Previous HGNC Symbols for KLKB1 Gene
Previous GeneCards Identifiers for KLKB1 Gene
This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
GeneCards Summary for KLKB1 Gene
KLKB1 (Kallikrein B1) is a Protein Coding gene. Diseases associated with KLKB1 include fletcher factor deficiency and malignant essential hypertension. Among its related pathways are Platelet activation, signaling and aggregation and Degradation of the extracellular matrix. GO annotations related to this gene include serine-type endopeptidase activity and heme binding. An important paralog of this gene is TMPRSS11A.
UniProtKB/Swiss-Prot for KLKB1 Gene
The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.