SERPINA3

Description

The SERPINA3 (serpin family A member 3) is a protein-coding gene located on chromosome 14.

Alpha 1-antichymotrypsin (symbol α1AC, A1AC, or a1ACT) is an alpha globulin glycoprotein belonging to the serpin superfamily. In humans, it is encoded by the SERPINA3 gene. Alpha 1-antichymotrypsin functions by inhibiting the activity of certain enzymes called proteases, such as cathepsin G found in neutrophils, and chymases found in mast cells. This inhibition occurs by altering the shape or conformation of these proteases. This activity protects tissues, particularly the lower respiratory tract, from damage caused by proteolytic enzymes. The protein is produced in the liver and is classified as an acute phase protein, meaning its levels increase during inflammation. Deficiencies in this protein have been linked to liver disease. Mutations in the gene have been identified in individuals with Parkinson's disease and chronic obstructive pulmonary disease. Alpha 1-antichymotrypsin is also implicated in the development of Alzheimer's disease as it promotes the formation of amyloid-fibrils. Interactions with DNAJC1 have been observed for Alpha 1-antichymotrypsin.

While the exact physiological role of SERPINA3 is not fully understood, it exhibits inhibitory activity against neutrophil cathepsin G and mast cell chymase. These enzymes are involved in the conversion of angiotensin-1 to the active angiotensin-2.

SERPINA3 is also known as AACT, ACT, GIG24, GIG25.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing