Scientific background: |
Alpha 1-antichymotrypsin, also called serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 or GIG24 is an alpha globulin glycoprotein that is a member of the serpin superfamily. In humans, it is encoded by the SERPINA3 gene. This gene is mapped to 14q32.13. The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. |
References: |
1. Chappell, S., Daly, L., Morgan, K., Baranes, T. G., Roca, J., Rabinovich, R., Millar, A., Donnelly, S. C., Keatings, V., MacNee, W., Stolk, J., Hiemstra, P., Miniati, M., Monti, S., O'Connor, C. M., Kalsheker, N. Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease. Hum. Mutat. 27: 103-109, 2006.
2. Wang, X., DeKosky, S. T., Luedecking-Zimmer, E., Ganguli, M., Kamboh, M. I. Genetic variation in alpha-1-antichymotrypsin and its association with Alzheimer's disease. Hum. Genet. 110: 356-365, 2002.
|