Key Laboratory of Molecular Biology, College of Bio-information, Chongqing University of Posts and Telecommunications, Chongqing 400065, PR China.
Int J Biochem Cell Biol. 2010 May;42(5):573-5. doi: 10.1016/j.biocel.2009.12.007. Epub 2009 Dec 16.
Neuropathy target esterase (NTE) is an endoplasmic reticulum-anchored protein conserved across species. The N-terminal regulatory region of NTE contains three cyclic nucleotide binding domains while the C-terminal catalytic domain has a patatin domain. The NTE gene is expressed in mouse early at embryonic day 7 and its expression is maintained throughout embryonic development. NTE protein is mainly distributed in the nervous system with a pattern that is more restricted to large neurons in older animals. NTE regulates phospholipid metabolism and is known to be a phospholipase B. Knockout of NTE is embryonic lethal in mice, indicating that NTE is essential for embryonic survival. Neuronal specific NTE knockouts survive to adulthood, but show vacuolation and neuronal loss characteristic of neurodegenerative diseases. Recently, mutations in human NTE have been shown to cause a hereditary spastic paraplegia called NTE-related motor neuron disorder, suggesting a critical role for NTE in the nervous system.
神经靶酯酶（NTE）是一种内质网锚定蛋白，在物种间保守。NTE 的 N 端调节区含有三个环核苷酸结合结构域，而 C 端催化结构域具有 patatin 结构域。NTE 基因在小鼠胚胎发育的第 7 天就有表达，其表达在胚胎发育过程中一直维持。NTE 蛋白主要分布在神经系统，在老年动物中，其分布模式更局限于大型神经元。NTE 调节磷脂代谢，是已知的磷脂酶 B。NTE 敲除的小鼠在胚胎期致死，表明 NTE 对胚胎存活至关重要。神经元特异性 NTE 敲除的小鼠能存活到成年，但表现出空泡化和神经元丢失的特征，这是神经退行性疾病的特征。最近，人类 NTE 的突变被证明会导致一种遗传性痉挛性截瘫，称为 NTE 相关运动神经元疾病，这表明 NTE 在神经系统中起着关键作用。
