SLC2A1

基因产物：溶质载体家族2(促进葡萄糖转运体)成员1。

蛋白功能：是血脑屏障中的主要葡萄糖转运蛋白，有利于葡萄糖向大脑的转运[1]。

相关疾病：肌张力障碍（AD）[2]；重度GLUT1缺乏综合症1型（婴儿期发病）（AD,AR）[3]；GLUT1缺乏综合症2型（儿童期发病）（AD）[4]；红细胞膜整合蛋白缺乏冷水肿细胞增多症伴神经功能缺陷（AD）[5]；特发性全面性癫痫（易感基因）（AD）[6]；癫痫伴肌阵挛失张力发作（Doose syndrome）[7]；儿童失神癫痫[8]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 20129935 (Brain. 2010); PMID: 18577546 (Brain. 2008)）

用药提醒：该基因突变所致的癫痫使用生酮饮食往往会取得很好的效果。

讨论版块：点击进入SLC2A1基因突变讨论版块。

参考文献

1. Klepper, J., et al., Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.Neurochem Res, 1999. 24(4): p. 587-94.
2. Weber, Y.G., et al., Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.Neurology, 2011. 77(10): p. 959-64.
3. Wang, D., P. Kranz-Eble, and D.C. De Vivo,Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.Hum Mutat, 2000. 16(3): p. 224-31.
4. Wang, D., et al., Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.Ann Neurol, 2005. 57(1): p. 111-8.
5. Flatt, J.F., et al., Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.Blood, 2011. 118(19): p. 5267-77.
6. Larsen, J., et al., The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.Epilepsia, 2015. 56(12): p. e203-8.
7. Mullen SA., et al. (2011): Glucose transporter 1 deficiency asa treatable cause of myoclonic astatic epilepsy. Arch Neurol 68: 1152-1155.
8. Koch, H. and Y.G. Weber, The glucose transporter type 1 (Glut1) syndromes. Epilepsy Behav, 2019. 91: p. 90-93.