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 Cell adhesion_Plasmin signaling and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include serine-type endopeptidase activity and heme binding. An important paralog of this gene is F11.
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.