Nuclear pore complex protein Nup107
The Nup107 gene encodes a nucleoporin. Nucleoporins are responsible for transport of substances from the nucleus (mainly RNAs) and to the nucleus (mainly proteins). Mutations of this gene cause autosomal recessive nephrotic syndrome 11.
Genetests:
Related Diseases:
References:
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Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.
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Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells.
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Boehmer T et al. (2003) Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex.
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Nagai S et al. (2008) Functional targeting of DNA damage to a nuclear pore-associated SUMO-dependent ubiquitin ligase.
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Zheng X et al. (2012) Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos.
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Miyake N et al. (2015) Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
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NCBI article
NCBI 57122
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OMIM.ORG article
Omim 607617
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Orphanet article
Orphanet ID 442980
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Wikipedia article
Wikipedia EN (Nucleoporin_107)
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Update: Aug. 14, 2020