Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. 
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| 2. |
Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells.
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| 3. |
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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| 4. |
Nagai S et al. (2008) Functional targeting of DNA damage to a nuclear pore-associated SUMO-dependent ubiquitin ligase.
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| 5. |
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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| 6. |
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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| 7. |
NCBI article NCBI 57122
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| 8. |
OMIM.ORG article Omim 607617
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| 9. |
Orphanet article Orphanet ID 442980
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| 10. |
Wikipedia article Wikipedia EN (Nucleoporin_107)
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