Serpin family G member 1 gene promoter (SERPING1 promoter)

The Serpin family G member 1 (SERPING1) gene promoter and regulatory DNA are the genomic sequences responsible for the transcriptional control of the C1 inhibitor (C1-INH) protein (MedlinePlus, 2024; NIH, 2022). C1-INH is a critical serine protease inhibitor that regulates the classical and lectin complement pathways, as well as the contact (kallikrein-kinin) system, by inactivating proteases such as C1r, C1s, and plasma kallikrein (MedlinePlus, 2024; NIH, 2020). Deficiencies or malfunctions in C1-INH, often caused by mutations in the SERPING1 gene or its regulatory elements, result in Hereditary Angioedema (HAE), a rare genetic disorder characterized by unpredictable and potentially fatal episodes of localized edema due to excessive bradykinin production (MedlinePlus, 2024; GeneCards, 2024). Therapeutic intervention at the promoter level historically involves the use of attenuated androgens, such as danazol, which stimulate the hepatic synthesis of C1-INH by acting on these regulatory elements (PharmacyFreak, 2025; Angioedema News, 2024). Modern approaches, including gene therapy and CRISPR-mediated gene activation (CRISPRa), are being investigated to target this regulatory region to restore physiological levels of C1-INH in heterozygous patients (NIH, 2022; JCI, 2022).

Other names

C1 inhibitor gene promoterC1-INH promoterC1 esterase inhibitor gene promoterSERPING1 regulatory DNASERPING1 5' regulatory region

Transcriptional activation of the SERPING1 gene to increase the production of C1 inhibitor protein.