基因产物:血小板活化因子乙酰水解酶1B调节亚基1。
蛋白功能:在神经元的迁移过程中起重要作用。
相关疾病:皮层下灰质异位(AD)[1];无脑回畸形(AD)[2];
West 综合征
[2]。
参考文献
- Pilz, D.T., et al., Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.Hum Mol Genet, 1999. 8(9): p. 1757-60.
- Cardoso, C., et al., Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Hum Mutat, 2002. 19(1): p. 4-15.
- Brock, S., W.B. Dobyns, and A. Jansen, PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia, in GeneReviews((R)), M.P. Adam, et al., Editors. 1993: Seattle (WA).