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Nucleoporin genes in human diseases.

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.

SUBMITTER: Nofrini V 

PROVIDER: S-EPMC5027676 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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Nucleoporin genes in human diseases.

Nofrini Valeria V   Di Giacomo Danika D   Mecucci Cristina C  

European journal of human genetics : EJHG 20160413 10

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. ...[more]