DefinitionThis section has been translated automatically.
The SERPING1 gene (SERPING1 stands for "Serine Proteinase Inhibitor Family G Member 1") is a protein-coding gene located on chromosome 11q12.1. Alternative splicing results in multiple transcript variants encoding the same isoform.
General informationThis section has been translated automatically.
The SERPING1 gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. The encoded protein, a C1 inhibitor, inhibits activated C1r and C1s of the first complement component, thereby regulating complement activation.
The C1 inhibitor encoded by the SERPING1 gene is synthesized in the liver. Its deficiency is associated with angioneurotic edema.
Diseases associated with SERPING1 include.
- hereditary angioedema type 1 (OMIM: 106100)
- Hereditary angioedema type 2.
Activation of the C1 complex occurs under the control of the C1 inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a critical role in regulating important physiological processes such as complement activation, blood coagulation, fibrinolysis, and kinin formation. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein (Sharma J et al 2021).
Signaling pathways affected include lectin-induced complement pathway and responses to elevated platelet cytosolic Ca2+.
Clinical pictureThis section has been translated automatically.
In hereditary angioedema (HAE), the formation of bradykinin is caused via continuous activation of the complement system due to a deficiency of one of its major inhibitors, C1 esterase inhibitor (C1-INH), as well as continuous production of kallikrein, another process inhibited by C1-INH.
LiteratureThis section has been translated automatically.
- Loules G et al (2018) Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. Genes 667:76-82.
- Obtulowicz K et al (2020) Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency. Cent Eur J Immunol 45:301-309.
- Sharma J et al (2021) Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene. Clin Rev Allergy Immunol 60:305-315.
