ARFGEF2基因介绍

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ARFGEF2基因介绍 was created by 凤凰

基因产物:二磷酸腺苷核糖基化因子鸟嘌呤核苷酸交换因子2。

蛋白功能:在细胞内囊泡转运中起重要作用,参与高尔基体囊泡转运的调节。

相关疾病:室管膜下结节状 灰质异位 伴小头畸形(AR)[1]。 


参考文献
  1. Banne, E., et al., West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.J Med Genet, 2013. 50(11): p. 772-5.
25 May 2022 15:00 #1

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