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PTEN

基因产物：磷酸酶和张力蛋白同系物。

蛋白功能：可通过磷酸肌醇去磷酸化拮抗PI3K-AKT/PKB信号通路，从而调节细胞周期进程和细胞存活。此外作为 AKT-mTOR 信号通路的关键调节蛋白，在神经发生过程对正确神经元的定位、树突发育和突触形成起重要作用（示意图1）。

相关疾病：Cowden 综合征1型（AD）[1]；小脑发育不良性神经节细胞瘤（Lhermitte-Duclos病）（AD）[2]；大头畸形/自闭症综合征（AD）[3]；前列腺癌（体细胞突变）[4]；胶质瘤易感2型[5]；脑膜瘤（AD）[6]；多小脑回畸形[7]。

突变数据库：ClinVar数据库。

相关临床及基础研究：PubMed数据库（PMID: 32399470 (Mol Neuropsychiatry. 2020)）。

讨论版块：点击进入PTEN基因突变讨论版块。

 

示意图1

PTEN

 

 

参考文献：

  1. Zhou, X.P., et al., Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet, 2003. 73(2): p. 404-11.
  2. Abel, T.W., et al., Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol, 2005. 64(4): p. 341-9.
  3. Ueno, Y., et al., A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Hum Genome Var, 2019. 6: p. 25.
  4. Wise, H.M., M.A. Hermida, and N.R. Leslie, Prostate cancer, PI3K, PTEN and prognosis. Clin Sci (Lond), 2017. 131(3): p. 197-210.
  5. Xiao, W.Z., et al., Relationships between PTEN gene mutations and prognosis in glioma: a meta-analysis. Tumour Biol, 2014. 35(7): p. 6687-93.
  6. Peters, N., et al., Analysis of the PTEN gene in human meningiomas. Neuropathol Appl Neurobiol, 1998. 24(1): p. 3-8.
  7. Shao, D.D., et al., Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol, 2020. 88(6): p. 1153-1164.