Literature summary extracted from
Kwon, M.J.; Kim, H.J.; Lee, K.O.; Jung, C.W.; Kim, S.H.
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency (2010), Blood Coagul. Fibrinolysis, 21, 308-312.
Cloned(Commentary)
EC Number |
Cloned (Comment) |
Organism |
---|
3.4.21.38 |
FXII gene sequence determination, genotyping |
Homo sapiens |
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
3.4.21.38 |
C135X |
naturally occuring mutation, Korean patient 2 |
Homo sapiens |
3.4.21.38 |
G582S |
mutation of c11744G>A plus insertion mutation c1093_1094insC, pK365QfsX69, naturally occuring mutation, Korean patient 3 |
Homo sapiens |
3.4.21.38 |
S528T/G582S |
naturally occuring mutation, Korean patient 1 |
Homo sapiens |
Organism
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
3.4.21.38 |
Homo sapiens |
P00748 |
- |
- |
Synonyms
EC Number |
Synonyms |
Comment |
Organism |
---|
3.4.21.38 |
coagulation factor XII |
- |
Homo sapiens |
3.4.21.38 |
FXII |
- |
Homo sapiens |
General Information
EC Number |
General Information |
Comment |
Organism |
---|
3.4.21.38 |
malfunction |
FXII deficiency in Korean patients leads to prolonged activated partial thromboplastin time |
Homo sapiens |
3.4.21.38 |
physiological function |
coagulation factor XII participates in the initiation of blood coagulation, complement systems, and bradykinin generation |
Homo sapiens |