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Literature summary for 3.4.21.38 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
Search for more literature for 3.4.21.38

Protein Variants

Protein Variants Comment Organism
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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
coagulation factor XII
-
 Homo sapiens
F12
-
 Homo sapiens
factor XII
-
 Homo sapiens

General Information

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