Gene Symbol | KLKB1 |
Entrez Gene ID | 3818 |
Full Name | kallikrein B1 |
Synonyms | KLK3,PKK,PKKD,PPK |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Fletcher factor (prekallikrein) deficiency, 612423 (3) |