RELN基因介绍

  • 凤凰
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RELN基因介绍 was created by 凤凰

基因产物:络丝蛋白。

蛋白功能:属于细胞外基质丝氨酸蛋白酶,调节神经元微管功能和神经元迁移。

相关疾病: 无脑回畸形 (AR)[1];  伴有听觉特点的常染色体显性遗传癫痫(家族性颞叶癫痫外侧型) (AD)[2]。

相关临床研究:PubMed数据库(PMID: 28142128 (Epilepsy Behav. 2017) ) 


参考文献
  1. Hong, S.E., et al., Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.Nat Genet, 2000. 26(1): p. 93-6.
  2. Dazzo, E., et al., Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.Am J Hum Genet, 2015. 96(6): p. 992-1000.
26 May 2022 09:52 #1

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