SERPINA3 gene

SERPINE3 (Serpin Family E Member 3) is a protein-coding gene located on chromosome 13q14.3. The protein encoded by this gene, a serine-type endopeptidase inhibitor, is involved in the negative regulation of endopeptidase activity.

Mutations in SERPINA3 have been described as predisposing risk factors for both AOID (adult-onset immunodeficiency syndrome) and GPP(generalized pustular psoriasis). Kantaputra P et al. (2021) reported on two unrelated patients with AOID and pustulosis and with GPP. In both patients, the same heterozygous variant c.718G>A (p.Val240Met) was detected in SERPINA1. It can be assumed that mutants in SERPINA1, SERPINA3 and possibly also in other members of the SERPIN family may be associated with the etiology of GPP and AOID.

1. Akiyama M. Pustular psoriasis as an autoinflammatory keratinization disease (AiKD): Genetic predisposing factors and promising therapeutic targets. J Dermatol Sci. 2022 Jan;105(1):11-17.
2. de Mezer M et al. (2023) SERPINA3: stimulator or inhibitor of pathological changes. Biomedicines 11:156.
3. Kantaputra P et al. (2021) SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiency. J Dermatol 48:1597-1601.
4. Liu Y et al. (2023) Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G. J Hum Genet 68: 419-425.
5. Slowik A et al (2005) Alpha1-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage. Stroke 36:737-740.
6. Yang SF et al (2023) Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics. Genes (Basel) 14:1297.