人肌醇单磷酸酶基因2与临床疾病

Human Genne Myo-Inositol Monophosphatase 2 Gene and Clinical Disease

人肌醇单磷酸酶基因2(IMPA2)是人类基因学方面,特别是精神神经疾病领域里最近几年来发现的一个较新颖的很有前途的疾病相关基因。它定位于人染色体18p11.2端,由约15 kb碱基对组成,编码生成IMPA2酶。IMPA2酶是主要催化肌醇生成,并在细胞信号传导系统发挥重要作用的一种酶。目前关于IMPA2基因的具体作用机制仍不十分清楚。但在基础研究方面,IMPA2基因结构、产物的生化作用和晶体结构已逐渐被确认;在临床应用上已发现IMPA2与躁狂抑郁精神疾病、精神分裂症和热性惊厥密切相关,甚至成为某些疾病的易感基因。IMPA2研究日益成为人们关注的热点。

Human genne myo - inositol monophosphatase 2 （ IMPA2 ） was recently a novel and promising gen that was associated with disease, especially in mental and neuro diseases. Its locus is in chromosome 18pl I 2, about 15 kb. It encodes IMPA2 enzyme. IMPA2 enzyme as a mainly and catalytic inositol plays an important role in cell signaling system. The mechanism of action of IMPA2 gene is still unclear. But in basic research on genetic structure and IMPA2 product, the biochemical functions and crystal structure have gradually been recognized; In the clinical application, the association with disease has been detected in manic depression, schizophrenia and febrile seizuers. IMPA2. even has been a susceptible gene to certain diseases. IMPA2 has increasingly been the hotspot in gene research.