WDR62基因介绍

  • 凤凰
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WDR62基因介绍 was created by 凤凰

基因产物:WD重复域蛋白62。

蛋白功能:在神经元增殖和迁移中起重要作用。

相关疾病:常染色体隐性遗传的原发性小头畸形伴或不伴皮质畸形(部分可有 多小脑回畸形 )(AR)[1,2]。 


参考文献
  1. Yu, T.W., et al., Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.Nat Genet, 2010. 42(11): p. 1015-20.
  2. Murdock, D.R., et al., Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A, 2011. 155A(9): p. 2071-7.
26 May 2022 10:46 #1

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