Bio Background |
This gene encodes a member of the serpin superfamily ofserine proteinase inhibitors. The protein is primarily secreted byaxons in the brain, and preferentially reacts with and inhibitstissue-type plasminogen activator. It is thought to play a role inthe regulation of axonal growth and the development of synapticplasticity. Mutations in this gene result in familialencephalopathy with neuroserpin inclusion bodies (FENIB), which isa dominantly inherited form of familial encephalopathy and epilepsycharacterized by the accumulation of mutant neuroserpin polymers.Multiple alternatively spliced variants, encoding the same protein, have been identified. |
Bio References |
Takehara, S., et al. J. Mol. Biol. 403(5):751-762(2010)Han, S., et al. Hum. Immunol. 71(7):727-730(2010)Rajaraman, P., et al. Cancer Epidemiol. Biomarkers Prev. 19(5):1356-1361(2010)Davies, M.J., et al. J. Biol. Chem. 284(27):18202-18209(2009)Rajaraman, P., et al. Cancer Epidemiol. Biomarkers Prev. 18(5):1651-1658(2009) |