ARX基因介绍

  • 凤凰
  • 凤凰's Avatar Topic Author
  • Elite Member
  • Elite Member
  • Posts: 212

ARX基因介绍 was created by 凤凰

基因产物:ARX(aristaless-related homeobox)蛋白。

蛋白功能:正常大脑发育所需的转录因子,可能对维持大脑皮层的特定神经元亚型和底板的轴突导向很重要。

相关疾病: 大田原综合征 (XLR)[1]; West 综合征 (XLR)[2];积水性无脑畸形伴外生殖器异常(XL),X连锁 无脑回畸形 (XL)[3];X连锁精神发育迟滞(XLR)[4];Partington综合征(XLR)[5];Proud综合症(XL)[6]。 


参考文献
  1. Giordano, L., et al., Familial Ohtahara syndrome due to a novel ARX gene mutation.Am J Med Genet A, 2010.152A(12): p. 3133-7.
  2. Stromme, P., et al., Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.Brain Dev, 2002. 24(5): p. 266-8.
  3. Kato, M., et al., Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Hum Mutat, 2004. 23(2): p. 147-59.
  4. Bienvenu, T., et al., ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.Hum Mol Genet, 2002. 11( 8 ): p. 981-91.
  5. Gronskov, K., et al., Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.Eur J Med Genet, 2014. 57(6): p. 284-7.
  6. Proud, V.K., C. Levine, and N.J. Carpenter, New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.Am J Med Genet, 1992. 43(1-2): p. 458-66.
25 May 2022 15:02 #1

Please Log in or Create an account to join the conversation.

Time to create page: 0.380 seconds