Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NUP133 gene encodes a protein, nuclear pore complex protein Nup133, that is invoved in formation of pores in the membrane of the nucleus. Mutations cause autosomal recessive Congenital nephrotic syndrome type 18.
| 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. |
Braun DA et al. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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| 3. |
Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells.
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| 4. |
Vasu S et al. (2001) Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export.
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| 5. |
Nakazato H et al. (2002) Another autosomal recessive form of focal glomerulosclerosis with neurological findings.
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| 6. |
Rasala BA et al. (2006) ELYS is a dual nucleoporin/kinetochore protein required for nuclear pore assembly and proper cell division.
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| 7. |
Lupu F et al. (2008) Nuclear pore composition regulates neural stem/progenitor cell differentiation in the mouse embryo.
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| 8. |
Fujita A et al. (2018) Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
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