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Literature summary extracted from

  • Bork, K.; Kleist, R.; Hardt, J.; Witzke, G.
    Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys (2009), Blood Coagul. Fibrinolysis, 20, 325-332.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
3.4.21.38 T309K naturally occuring mutation of factor XII, isolated from hereditary angioedema patients. The mutation does not affect FXII surface activation or kallikrein-like activity, and does not lead to a gain-of-function of FXIIa, overview Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.4.21.38 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.4.21.38 blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.4.21.38 prekallikrein + H2O
-
 Homo sapiens kallikrein + kallikrein prepeptide
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.4.21.38 coagulation factor XII
-
 Homo sapiens
3.4.21.38 F12
-
 Homo sapiens
3.4.21.38 factor XII
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
3.4.21.38 malfunction the naturally occuring mutation of factor XII, T309K, causes hereditary angioedema without affecting FXII surface activation or kallikrein-like activity, overview Homo sapiens