The SERPING1 gene provides instructions for making a protein called C1 inhibitor (C1-INH), which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking the activity of certain proteins. C1-INH is important for controlling a range of processes involved in maintaining blood vessels, including inflammation. Inflammation is a normal body response to infection, irritation, or injury.
C1-INH blocks the activity of several proteins in the blood, including plasma kallikrein and the activated form of factor XII (called factor XIIa). These two proteins are involved in the production of bradykinin. Bradykinin is a protein fragment (peptide) that promotes inflammation by allowing fluids to leak through blood vessel walls into body tissues (vascular permeability). C1-INH attaches (binds) to plasma kallikrein and factor XIIa, which prevents them from completing any further reactions. These proteins are cleared from the bloodstream once they are bound to C1-INH.
Other Names
C1-INH; C1IN; C1INH; C1NH; complement component 1 inhibitor; IC1_HUMAN; plasma protease C1 inhibitor; serine/cysteine proteinase inhibitor clade G member 1; serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Related Genetics Topics
Identifiers
- NCBI Gene: 710
- OMIM: 606860
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
