Factor XII (F12) ELISA Kit

F12: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta- factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. Defects in F12 are the cause of factor XII deficiency (FA12D); also known as Hageman factor deficiency. This trait is an asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. F12 deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). Defects in F12 are the cause of hereditary angioedema type 3 (HAE3); also known as estrogen-related HAE or hereditary angioneurotic edema with normal C1 inhibitor concentration and function. HAE is characterized by episodic local subcutaneous edema, and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE3 occurs exclusively in women and is precipitated or worsened by high estrogen levels (e.g. during pregnancy or treatment with oral contraceptives). It differs from HAE types 1 and 2 in that both concentration and function of C1 inhibitor are normal. Belongs to the peptidase S1 family.

Protein type: Chaperone; EC 3.4.21.38; Protease; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 5q35.3

Cellular Component: extracellular region; extracellular space; plasma membrane

Molecular Function: misfolded protein binding; protein binding; serine-type endopeptidase activity

Biological Process: blood coagulation, intrinsic pathway; Factor XII activation; innate immune response; plasma kallikrein-kinin cascade; positive regulation of blood coagulation; positive regulation of fibrinolysis; protein autoprocessing; protein processing; response to misfolded protein; zymogen activation

Disease: Angioedema, Hereditary, Type Iii; Factor Xii Deficiency