人类疾病中的核孔蛋白基因。
Nucleoporin genes in human diseases.
作者信息
Nofrini Valeria, Di Giacomo Danika, Mecucci Cristina
机构信息
Department of Medicine, Laboratory of Molecular Medicine, CREO, University of Perugia, Perugia, Italy.
出版信息
Eur J Hum Genet. 2016 Oct;24(10):1388-95. doi: 10.1038/ejhg.2016.25. Epub 2016 Apr 13.
Abstract
Nuclear pore complexes (NPCs) are large channels spanning the nuclear envelope that mediate nucleocytoplasmic transport. They are composed of multiple copies of ~30 proteins termed nucleoporins (NUPs). Alterations in NUP genes are linked to several human neoplastic and non-neoplastic diseases. This review focuses on NUPs, their genes, localization, function in the NPC and involvement in human diseases.
摘要
核孔复合体（NPCs）是跨越核膜的大型通道，介导核质运输。它们由约30种称为核孔蛋白（NUPs）的蛋白质的多个拷贝组成。NUP基因的改变与几种人类肿瘤性和非肿瘤性疾病有关。本综述聚焦于核孔蛋白、它们的基因、定位、在核孔复合体中的功能以及与人类疾病的关联。
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