Nucleoporin genes in human diseases

Valeria Nofrini; Danika Di Giacomo; Cristina Mecucci

doi:10.1038/ejhg.2016.25

Nucleoporin genes in human diseases

Eur J Hum Genet. 2016 Oct;24(10):1388-95. doi: 10.1038/ejhg.2016.25. Epub 2016 Apr 13.

Authors

Valeria Nofrini¹, Danika Di Giacomo¹, Cristina Mecucci¹

Affiliation

¹ Department of Medicine, Laboratory of Molecular Medicine, CREO, University of Perugia, Perugia, Italy.

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.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Animals
Cardiovascular Diseases / genetics
Cardiovascular Diseases / metabolism*
Humans
Immune System Diseases / genetics
Immune System Diseases / metabolism*
Neoplasms / genetics
Neoplasms / metabolism*
Nervous System Diseases / genetics
Nervous System Diseases / metabolism*
Nuclear Pore Complex Proteins / genetics*
Nuclear Pore Complex Proteins / metabolism

Substances

Nuclear Pore Complex Proteins