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