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
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Review
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Cardiovascular Diseases / genetics
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Cardiovascular Diseases / metabolism*
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Humans
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Immune System Diseases / genetics
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Immune System Diseases / metabolism*
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Neoplasms / genetics
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Neoplasms / metabolism*
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Nervous System Diseases / genetics
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Nervous System Diseases / metabolism*
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Nuclear Pore Complex Proteins / genetics*
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Nuclear Pore Complex Proteins / metabolism
Substances
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Nuclear Pore Complex Proteins