LP99579-2
F12 gene
Active
Description
The F12 gene (coagulation factor XII (Hageman factor)) [HGNC Gene ID:3530] is located on chromosome 5q35.3. This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2161] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- F12 gene
- Part Display Name
- F12 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-03-05
- Construct for LOINC Short Name
- F12 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | F12 基因 Synonyms: HAE3; |
| et-EE | Estonian (Estonia) | F12 geen |
| es-ES | Spanish (Spain) | Gen F12 |
| it-IT | Italian (Italy) | F12, gene Synonyms: Gene F12 |
| tr-TR | Turkish (Turkey) | F12 geni |
| ru-RU | Russian (Russian Federation) | F12 ген |
| nl-NL | Dutch (Netherlands) | F12-gen Synonyms: f12 gen |
| fr-FR | French (France) | F12 gène |
| pl-PL | Polish (Poland) | F12 gen Synonyms: Gen F12 |
| el-GR | Greek (Greece) | Γονίδιο F12 Synonyms: Γονίδιο F12 |
LOINC Copyright
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